19-50919867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919867
    reference: chr 19
allele count: 3
allele frequency: 1.723345588235294e-4
allele num: 17408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.580G>A
  hgvsp: ENSP00000469308.1:p.Arg194Gln
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3032G>A
  hgvsp: ENSP00000472445.1:p.Arg1011Gln
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2851G>A
  hgvsp: ENSP00000470726.1:p.Gly951Arg
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2954G>A
  hgvsp: ENSP00000473052.1:p.Arg985Gln
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2954G>A
  hgvsp: ENSP00000406046.1:p.Arg985Gln
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.162G>A
  hgvsp: ENSP00000473233.1:p.Arg55Gln
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.298G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.888G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.735G>A
  hgvsp: ENSP00000469115.1:p.Arg246Gln
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27078
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg985Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

19-50919868-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919868
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919868
    reference: chr 19
allele count: 10
allele frequency: 5.606009642336585e-4
allele num: 17838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.163G>T
  hgvsp: ENST00000599632.1:c.163G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2955G>T
  hgvsp: ENST00000599857.1:c.2955G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.299G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2852G>T
  hgvsp: ENSP00000470726.1:p.Gly951Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3033G>T
  hgvsp: ENST00000595904.1:c.3033G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.889G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.581G>T
  hgvsp: ENST00000593981.1:c.581G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2955G>T
  hgvsp: ENST00000440232.2:c.2955G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.736G>T
  hgvsp: ENST00000593407.1:c.736G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22489
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27316
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Gly951Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

19-50919880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919880
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919880
    reference: chr 19
allele count: 66
allele frequency: 3.571428571428571e-3
allele num: 18480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.175G>A
  hgvsp: ENST00000599632.1:c.175G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3045G>A
  hgvsp: ENST00000595904.1:c.3045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.593G>A
  hgvsp: ENST00000593981.1:c.593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.901G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2967G>A
  hgvsp: ENST00000599857.1:c.2967G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2967G>A
  hgvsp: ENST00000440232.2:c.2967G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2864G>A
  hgvsp: ENSP00000470726.1:p.Arg955His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.748G>A
  hgvsp: ENST00000593407.1:c.748G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.311G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29075
  bin: 7.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20534
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Arg955His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

19-50919880-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919880
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919880
    reference: chr 19
allele count: 1
allele frequency: 5.411255411255411e-5
allele num: 18480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3045G>T
  hgvsp: ENST00000595904.1:c.3045G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.175G>T
  hgvsp: ENST00000599632.1:c.175G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2864G>T
  hgvsp: ENSP00000470726.1:p.Arg955Leu
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2967G>T
  hgvsp: ENST00000599857.1:c.2967G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2967G>T
  hgvsp: ENST00000440232.2:c.2967G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.593G>T
  hgvsp: ENST00000593981.1:c.593G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.748G>T
  hgvsp: ENST00000593407.1:c.748G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.901G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.311G>T
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29075
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg955Leu
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: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-50919882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919882
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919882
    reference: chr 19
allele count: 2
allele frequency: 1.080613788631943e-4
allele num: 18508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.595G>A
  hgvsp: ENSP00000469308.1:p.Arg199His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3047G>A
  hgvsp: ENSP00000472445.1:p.Arg1016His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.177G>A
  hgvsp: ENSP00000473233.1:p.Arg60His
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2969G>A
  hgvsp: ENSP00000406046.1:p.Arg990His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.750G>A
  hgvsp: ENSP00000469115.1:p.Arg251His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2969G>A
  hgvsp: ENSP00000473052.1:p.Arg990His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.903G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.313G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2866G>A
  hgvsp: ENSP00000470726.1:p.Ala956Thr
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29263
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
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: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26569
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg990His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

19-50919885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919885
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919885
    reference: chr 19
allele count: 4
allele frequency: 2.131060202450719e-4
allele num: 18770
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.180G>A
  hgvsp: ENSP00000473233.1:p.Cys61Tyr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2972G>A
  hgvsp: ENSP00000406046.1:p.Cys991Tyr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.598G>A
  hgvsp: ENSP00000469308.1:p.Cys200Tyr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.316G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3050G>A
  hgvsp: ENSP00000472445.1:p.Cys1017Tyr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2869G>A
  hgvsp: ENSP00000470726.1:p.Ala957Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.753G>A
  hgvsp: ENSP00000469115.1:p.Cys252Tyr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2972G>A
  hgvsp: ENSP00000473052.1:p.Cys991Tyr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.906G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29384
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys991Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-50919891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919891
    reference: chr 19
allele count: 1
allele frequency: 5.257070760172432e-5
allele num: 19022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.604C>T
  hgvsp: ENSP00000469308.1:p.Thr202Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.186C>T
  hgvsp: ENSP00000473233.1:p.Thr63Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3056C>T
  hgvsp: ENSP00000472445.1:p.Thr1019Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.322C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2978C>T
  hgvsp: ENSP00000406046.1:p.Thr993Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.759C>T
  hgvsp: ENSP00000469115.1:p.Thr254Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2875C>T
  hgvsp: ENSP00000470726.1:p.Arg959Trp
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2978C>T
  hgvsp: ENSP00000473052.1:p.Thr993Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.912C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr993Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

19-50919892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919892
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919892
    reference: chr 19
allele count: 12
allele frequency: 6.289967501834574e-4
allele num: 19078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2979G>A
  hgvsp: ENST00000599857.1:c.2979G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.187G>A
  hgvsp: ENST00000599632.1:c.187G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2876G>A
  hgvsp: ENSP00000470726.1:p.Arg959Gln
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.605G>A
  hgvsp: ENST00000593981.1:c.605G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.760G>A
  hgvsp: ENST00000593407.1:c.760G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.913G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2979G>A
  hgvsp: ENST00000440232.2:c.2979G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.323G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3057G>A
  hgvsp: ENST00000595904.1:c.3057G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29339
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Arg959Gln
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

19-50919896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919896
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919896
    reference: chr 19
allele count: 1
allele frequency: 5.185646131507986e-5
allele num: 19284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2983C>T
  hgvsp: ENSP00000473052.1:p.Leu995Phe
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3061C>T
  hgvsp: ENSP00000472445.1:p.Leu1021Phe
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.191C>T
  hgvsp: ENSP00000473233.1:p.Leu65Phe
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2983C>T
  hgvsp: ENSP00000406046.1:p.Leu995Phe
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.327C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.917C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.609C>T
  hgvsp: ENSP00000469308.1:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2880C>T
  hgvsp: ENST00000600859.1:c.2880C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.764C>T
  hgvsp: ENSP00000469115.1:p.Leu256Phe
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu995Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

19-50919901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919901
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919901
    reference: chr 19
allele count: 3
allele frequency: 1.568053522893582e-4
allele num: 19132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.2988G>A
  hgvsp: ENST00000599857.1:c.2988G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.2988G>A
  hgvsp: ENST00000440232.2:c.2988G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2885G>A
  hgvsp: ENSP00000470726.1:p.Arg962Gln
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.332G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.769G>A
  hgvsp: ENST00000593407.1:c.769G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.196G>A
  hgvsp: ENST00000599632.1:c.196G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3066G>A
  hgvsp: ENST00000595904.1:c.3066G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.922G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.614G>A
  hgvsp: ENST00000593981.1:c.614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27959
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg962Gln
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: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

19-50919913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919913
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919913
    reference: chr 19
allele count: 2
allele frequency: 1.042535446205171e-4
allele num: 19184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.934C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3000C>T
  hgvsp: ENST00000440232.2:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2897C>T
  hgvsp: ENSP00000470726.1:p.Ala966Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3000C>T
  hgvsp: ENST00000599857.1:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.626C>T
  hgvsp: ENST00000593981.1:c.626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.208C>T
  hgvsp: ENST00000599632.1:c.208C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.781C>T
  hgvsp: ENST00000593407.1:c.781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.344C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3078C>T
  hgvsp: ENST00000595904.1:c.3078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22070
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala966Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

19-50919914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919914
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919914
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 18932
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.209G>A
  hgvsp: ENSP00000473233.1:p.Gly71Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3001G>A
  hgvsp: ENSP00000473052.1:p.Gly1001Ser
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.782G>A
  hgvsp: ENSP00000469115.1:p.Gly262Ser
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3079G>A
  hgvsp: ENSP00000472445.1:p.Gly1027Ser
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.935G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.627G>A
  hgvsp: ENSP00000469308.1:p.Gly210Ser
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3001G>A
  hgvsp: ENSP00000406046.1:p.Gly1001Ser
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.345G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2898G>A
  hgvsp: ENST00000600859.1:c.2898G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25213
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 1.25e1
  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: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22915
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1001Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

19-50919919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919919
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919919
    reference: chr 19
allele count: 1
allele frequency: 5.281504172388296e-5
allele num: 18934
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3006C>T
  hgvsp: ENST00000440232.2:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.214C>T
  hgvsp: ENST00000599632.1:c.214C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.787C>T
  hgvsp: ENST00000593407.1:c.787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3006C>T
  hgvsp: ENST00000599857.1:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.632C>T
  hgvsp: ENST00000593981.1:c.632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2903C>T
  hgvsp: ENSP00000470726.1:p.Ser968Phe
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3084C>T
  hgvsp: ENST00000595904.1:c.3084C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.350C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.940C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24402
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser968Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

19-50919923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919923
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919923
    reference: chr 19
allele count: 1
allele frequency: 5.352172982230786e-5
allele num: 18684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.636G>A
  hgvsp: ENSP00000469308.1:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.218G>A
  hgvsp: ENSP00000473233.1:p.Ala74Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.944G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.354G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3088G>A
  hgvsp: ENSP00000472445.1:p.Ala1030Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3010G>A
  hgvsp: ENSP00000406046.1:p.Ala1004Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2907G>A
  hgvsp: ENSP00000470726.1:p.Trp969Ter
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3010G>A
  hgvsp: ENSP00000473052.1:p.Ala1004Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.791G>A
  hgvsp: ENSP00000469115.1:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp969Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-50919928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919928
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919928
    reference: chr 19
allele count: 5
allele frequency: 2.857142857142857e-4
allele num: 17500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.359C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3093C>T
  hgvsp: ENST00000595904.1:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2912C>T
  hgvsp: ENSP00000470726.1:p.Ser971Leu
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.641C>T
  hgvsp: ENST00000593981.1:c.641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.223C>T
  hgvsp: ENST00000599632.1:c.223C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.796C>T
  hgvsp: ENST00000593407.1:c.796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.949C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3015C>T
  hgvsp: ENST00000440232.2:c.3015C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3015C>T
  hgvsp: ENST00000599857.1:c.3015C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19531
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser971Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50919929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919929
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919929
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 17516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.642G>A
  hgvsp: ENSP00000469308.1:p.Ala215Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.224G>A
  hgvsp: ENSP00000473233.1:p.Ala76Thr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3016G>A
  hgvsp: ENSP00000406046.1:p.Ala1006Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3016G>A
  hgvsp: ENSP00000473052.1:p.Ala1006Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.950G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3094G>A
  hgvsp: ENSP00000472445.1:p.Ala1032Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.360G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2913G>A
  hgvsp: ENST00000600859.1:c.2913G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.797G>A
  hgvsp: ENSP00000469115.1:p.Ala267Thr
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19465
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ala1006Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-50919936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919936
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919936
    reference: chr 19
allele count: 1
allele frequency: 5.954507562224604e-5
allele num: 16794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.649G>A
  hgvsp: ENSP00000469308.1:p.Arg217His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3023G>A
  hgvsp: ENSP00000406046.1:p.Arg1008His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.367G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.957G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.231G>A
  hgvsp: ENSP00000473233.1:p.Arg78His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3101G>A
  hgvsp: ENSP00000472445.1:p.Arg1034His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3023G>A
  hgvsp: ENSP00000473052.1:p.Arg1008His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2920G>A
  hgvsp: ENSP00000470726.1:p.Ala974Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.804G>A
  hgvsp: ENSP00000469115.1:p.Arg269His
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30485
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1008His
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-50919938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919938
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919938
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 16796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3025C>T
  hgvsp: ENSP00000473052.1:p.Arg1009Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3103C>T
  hgvsp: ENSP00000472445.1:p.Arg1035Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.369C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.806C>T
  hgvsp: ENSP00000469115.1:p.Arg270Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3025C>T
  hgvsp: ENSP00000406046.1:p.Arg1009Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.651C>T
  hgvsp: ENSP00000469308.1:p.Arg218Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.959C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2922C>T
  hgvsp: ENST00000600859.1:c.2922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.233C>T
  hgvsp: ENSP00000473233.1:p.Arg79Cys
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
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: 2462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16857
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1009Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

19-50919939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919939
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919939
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 16304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.652G>A
  hgvsp: ENSP00000469308.1:p.Arg218His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.234G>A
  hgvsp: ENSP00000473233.1:p.Arg79His
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.960G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3026G>A
  hgvsp: ENSP00000473052.1:p.Arg1009His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.807G>A
  hgvsp: ENSP00000469115.1:p.Arg270His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2923G>A
  hgvsp: ENSP00000470726.1:p.Ala975Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3104G>A
  hgvsp: ENSP00000472445.1:p.Arg1035His
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.370G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3026G>A
  hgvsp: ENSP00000406046.1:p.Arg1009His
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32018
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15661
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31789
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1009His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

19-50919951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919951
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919951
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 14610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3116T>C
  hgvsp: ENSP00000472445.1:p.Ile1039Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.819T>C
  hgvsp: ENSP00000469115.1:p.Ile274Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3038T>C
  hgvsp: ENSP00000406046.1:p.Ile1013Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.664T>C
  hgvsp: ENSP00000469308.1:p.Ile222Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2935T>C
  hgvsp: ENST00000600859.1:c.2935T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.382T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.972T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3038T>C
  hgvsp: ENSP00000473052.1:p.Ile1013Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.246T>C
  hgvsp: ENSP00000473233.1:p.Ile83Thr
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile1013Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-50919965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919965
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919965
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 12974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.986G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2949G>A
  hgvsp: ENST00000600859.1:c.2949G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.260G>A
  hgvsp: ENSP00000473233.1:p.Val88Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.678G>A
  hgvsp: ENSP00000469308.1:p.Val227Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3052G>A
  hgvsp: ENSP00000406046.1:p.Val1018Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3130G>A
  hgvsp: ENSP00000472445.1:p.Val1044Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.833G>A
  hgvsp: ENSP00000469115.1:p.Val279Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3052G>A
  hgvsp: ENSP00000473052.1:p.Val1018Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.396G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35639
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val1018Met
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-50919967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919967
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919967
    reference: chr 19
allele count: 2
allele frequency: 1.5625e-4
allele num: 12800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.835G>A
  hgvsp: ENST00000593407.1:c.835G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3132G>A
  hgvsp: ENST00000595904.1:c.3132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2951G>A
  hgvsp: ENSP00000470726.1:p.Cys984Tyr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.680G>A
  hgvsp: ENST00000593981.1:c.680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.262G>A
  hgvsp: ENST00000599632.1:c.262G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.398G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3054G>A
  hgvsp: ENST00000599857.1:c.3054G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3054G>A
  hgvsp: ENST00000440232.2:c.3054G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.988G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36660
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35312
  bin: 7.5e0
  variant carriers: 2
hgvs: p.Cys984Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-50919988-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50919988
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50919987
    reference: chr 19
allele count: 1
allele frequency: 9.092562284051645e-5
allele num: 10998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3145+11delC
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1001+11delC
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3067+11delC
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.411+11delC
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.693+11delC
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3067+11delC
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2964+11delC
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.848+11delC
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.275+11delC
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32364
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29421
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: GC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

19-50920020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920020
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920020
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 9174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3067+40C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.693+40C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3145+40C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2964+40C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1001+40C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.848+40C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.411+40C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3067+40C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.275+40C>T
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26110
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18386
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

19-50920029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920029
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920029
    reference: chr 19
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1001+49C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3145+49C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.848+49C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.693+49C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2964+49C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.411+49C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3067+49C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.275+49C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3067+49C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-50920030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920030
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920030
    reference: chr 19
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3067+50C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3145+50C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3067+50C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1001+50C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.275+50C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.411+50C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.693+50C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.848+50C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2964+50C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-50920261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920261
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920261
    reference: chr 19
allele count: 1
allele frequency: 5.585344057193923e-5
allele num: 17904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.412-41T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2965-41T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.52T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3068-41T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3146-41T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-168T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3068-41T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1002-41T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.276-41T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.849-41T>C
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7856
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-50920288-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920288
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920288
    reference: chr 19
allele count: 7
allele frequency: 3.740115409275486e-4
allele num: 18716
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.276-14C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3146-14C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.412-14C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.79C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2965-14C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1002-14C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.849-14C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3068-14C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-141C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3068-14C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32581
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28068
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

19-50920290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920290
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920290
    reference: chr 19
allele count: 2
allele frequency: 1.053962900505902e-4
allele num: 18976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.81G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.412-12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-139G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3068-12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.849-12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3068-12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3146-12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2965-12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1002-12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.276-12G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

19-50920294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920294
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920294
    reference: chr 19
allele count: 1
allele frequency: 5.154107823935677e-5
allele num: 19402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3068-8C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3146-8C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.849-8C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.276-8C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2965-8C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.412-8C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1002-8C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3068-8C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.85C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-135C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
hgvs: c.276-8C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

19-50920297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920297
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920297
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.412-5C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-132C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3068-5C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.849-5C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3068-5C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1002-5C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3146-5C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2965-5C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.88C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.276-5C>T
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34746
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
hgvs: c.276-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

19-50920306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920306
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920306
    reference: chr 19
allele count: 1
allele frequency: 5.006508460999299e-5
allele num: 19974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-123C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3072C>T
  hgvsp: ENST00000440232.2:c.3072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.97C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469115
  ensembl transcript: ENST00000593407
  gene symbol: POLD1
  hgvsc: ENST00000593407.1:c.853C>T
  hgvsp: ENST00000593407.1:c.853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1006C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3150C>T
  hgvsp: ENST00000595904.1:c.3150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3072C>T
  hgvsp: ENST00000599857.1:c.3072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.280C>T
  hgvsp: ENST00000599632.1:c.280C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2969C>T
  hgvsp: ENSP00000470726.1:p.Pro990Leu
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.416C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36011
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro990Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-50920327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920327
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920327
    reference: chr 19
allele count: 1
allele frequency: 4.836525440123815e-5
allele num: 20676
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.301C>T
  hgvsp: ENST00000599632.1:c.301C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3093C>T
  hgvsp: ENST00000599857.1:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2990C>T
  hgvsp: ENSP00000470726.1:p.Pro997Leu
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.437C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-102C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3171C>T
  hgvsp: ENST00000595904.1:c.3171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.118C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3093C>T
  hgvsp: ENST00000440232.2:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1027C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro997Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

19-50920328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920328
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920328
    reference: chr 19
allele count: 1
allele frequency: 4.829984544049459e-5
allele num: 20704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-101C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3094C>T
  hgvsp: ENSP00000473052.1:p.Arg1032Trp
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3172C>T
  hgvsp: ENSP00000472445.1:p.Arg1058Trp
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.302C>T
  hgvsp: ENSP00000473233.1:p.Arg102Trp
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.119C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.438C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3094C>T
  hgvsp: ENSP00000406046.1:p.Arg1032Trp
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2991C>T
  hgvsp: ENST00000600859.1:c.2991C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1028C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34066
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg102Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-50920329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920329
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920329
    reference: chr 19
allele count: 2
allele frequency: 9.62556550197324e-5
allele num: 20778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.120G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1029G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.303G>A
  hgvsp: ENSP00000473233.1:p.Arg102Gln
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3095G>A
  hgvsp: ENSP00000406046.1:p.Arg1032Gln
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3095G>A
  hgvsp: ENSP00000473052.1:p.Arg1032Gln
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2992G>A
  hgvsp: ENSP00000470726.1:p.Gly998Arg
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3173G>A
  hgvsp: ENSP00000472445.1:p.Arg1058Gln
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.439G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-100G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11997
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg102Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-50920335-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920335
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920335
    reference: chr 19
allele count: 1
allele frequency: 4.749240121580547e-5
allele num: 21056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.2998C>G
  hgvsp: ENSP00000470726.1:p.Leu1000Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.309C>G
  hgvsp: ENSP00000473233.1:p.Ser104Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.445C>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3101C>G
  hgvsp: ENSP00000473052.1:p.Ser1034Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.126C>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3179C>G
  hgvsp: ENSP00000472445.1:p.Ser1060Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-94C>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3101C>G
  hgvsp: ENSP00000406046.1:p.Ser1034Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1035C>G
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30852
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser104Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

19-50920339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920339
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920339
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-90G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3105G>A
  hgvsp: ENST00000440232.2:c.3105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3002G>A
  hgvsp: ENSP00000470726.1:p.Ser1001Asn
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.313G>A
  hgvsp: ENST00000599632.1:c.313G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3105G>A
  hgvsp: ENST00000599857.1:c.3105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.449G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.130G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3183G>A
  hgvsp: ENST00000595904.1:c.3183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1039G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 30953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15999
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29657
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser1001Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-50920347-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920347
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920347
    reference: chr 19
allele count: 1
allele frequency: 4.622781065088757e-5
allele num: 21632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596648
  gene symbol: POLD1
  hgvsc: ENST00000596648.1:n.1047A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3010A>G
  hgvsp: ENSP00000470726.1:p.Arg1004Gly
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.321A>G
  hgvsp: ENSP00000473233.1:p.Gln108Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.457A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.138A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3191A>G
  hgvsp: ENSP00000472445.1:p.Gln1064Arg
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3113A>G
  hgvsp: ENSP00000473052.1:p.Gln1038Arg
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-82A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3113A>G
  hgvsp: ENSP00000406046.1:p.Gln1038Arg
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln108Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

19-50920353-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920353
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920353
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21948
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.327A>T
  hgvsp: ENSP00000473233.1:p.Glu110Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3119A>T
  hgvsp: ENSP00000473052.1:p.Glu1040Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.144A>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3197A>T
  hgvsp: ENSP00000472445.1:p.Glu1066Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3119A>T
  hgvsp: ENSP00000406046.1:p.Glu1040Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.463A>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-76A>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3016A>T
  hgvsp: ENSP00000470726.1:p.Arg1006Trp
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 20959
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25792
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1040Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-50920365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920365
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920365
    reference: chr 19
allele count: 1
allele frequency: 4.338394793926247e-5
allele num: 23050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3198+11C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3120+11C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3120+11C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.464+11C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.145+11C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.328+11C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3017+11C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-64C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23970
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-50920366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920366
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920366
    reference: chr 19
allele count: 7
allele frequency: 2.989919699299505e-4
allele num: 23412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.145+12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3198+12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3017+12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.328+12G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3120+12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-63G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.464+12G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3120+12G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22626
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24645
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20418
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-50920367-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920367
    reference: chr 19
allele count: 3
allele frequency: 1.271725307333616e-4
allele num: 23590
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3120+13G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3198+13G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.145+13G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.328+13G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.464+13G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3017+13G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-62G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3120+13G>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24886
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-50920370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920370
    reference: chr 19
allele count: 1
allele frequency: 4.191114836546522e-5
allele num: 23860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.464+16G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.145+16G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-59G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3120+16G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3120+16G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.328+16G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3017+16G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3198+16G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-50920377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920377
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920377
    reference: chr 19
allele count: 5
allele frequency: 2.00256328099968e-4
allele num: 24968
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.328+23A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3120+23A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3198+23A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3017+23A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-52A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.145+23A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3120+23A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.464+23A>G
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27233
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19491
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19588
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-50920382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920382
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920382
    reference: chr 19
allele count: 1
allele frequency: 3.926804366606456e-5
allele num: 25466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.328+28C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.145+28C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3120+28C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.464+28C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-47C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3017+28C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3120+28C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3198+28C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
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: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

19-50920390-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920390
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920390
    reference: chr 19
allele count: 1
allele frequency: 3.777861730260673e-5
allele num: 26470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3017+36G>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3120+36G>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.464+36G>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.328+36G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-39G>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.145+36G>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3198+36G>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3120+36G>C
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27861
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

19-50920395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920395
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920395
    reference: chr 19
allele count: 1
allele frequency: 3.791900500530866e-5
allele num: 26372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-34C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-34C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-34C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-34C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-34C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-34C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-34C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-34C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5840
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

19-50920396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920396
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920396
    reference: chr 19
allele count: 2
allele frequency: 7.115411982353779e-5
allele num: 28108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-33G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-33G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-33G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-33G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-33G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-33G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-33G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-33G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-50920399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920399
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920399
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-30G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-30G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-30G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-30G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-30G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-30G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-30G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-30G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29444
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-50920400-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920400
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920400
    reference: chr 19
allele count: 1
allele frequency: 3.461165720614703e-5
allele num: 28892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-29G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-29G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-29G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-29G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-29G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-29G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-29G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-29G>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

19-50920402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920402
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920402
    reference: chr 19
allele count: 1
allele frequency: 3.448989446092295e-5
allele num: 28994
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-27G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-27G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-27G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-27G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-27G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-27G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-27G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-27G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30213
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-50920410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920410
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920410
    reference: chr 19
allele count: 2587
allele frequency: 7.638478800047242e-2
allele num: 33868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-19C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-19C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-19C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-19C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-19C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-19C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-19C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-19C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31609
  bin: 7.5e0
  variant carriers: 881
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 427
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 2.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 2.5e0
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 1.25e1
  variant carriers: 921
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 2.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 6.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 28228
  bin: 2.25e1
  variant carriers: 108
num of homozygotes: 272
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-50920414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920414
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920414
    reference: chr 19
allele count: 14
allele frequency: 3.897550111358575e-4
allele num: 35920
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-15C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-15C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-15C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-15C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-15C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-15C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-15C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-15C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32519
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7988
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-50920415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920415
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920415
    reference: chr 19
allele count: 6
allele frequency: 1.637107776261937e-4
allele num: 36650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-14G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-14G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-14G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-14G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-14G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-14G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-14G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-14G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32792
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-50920417-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920417
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920417
    reference: chr 19
allele count: 1
allele frequency: 2.584246433739921e-5
allele num: 38696
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-12T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-12T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-12T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-12T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-12T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-12T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-12T>C
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-12T>C
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33453
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-50920420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920420
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920420
    reference: chr 19
allele count: 8
allele frequency: 1.917729408380478e-4
allele num: 41716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-9C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-9C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-9C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-9C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-9C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-9C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-9C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-9C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33307
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5719
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33921
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-50920421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920421
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920421
    reference: chr 19
allele count: 2
allele frequency: 4.662439388287953e-5
allele num: 42896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3199-8G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3121-8G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.146-8G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.465-8G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.694-8G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3018-8G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.329-8G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3121-8G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33107
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5175
  bin: 7.5e0
  variant carriers: 0
hgvs: c.329-8G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-50920440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920440
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920440
    reference: chr 19
allele count: 1
allele frequency: 1.648261084555794e-5
allele num: 60670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.705G>A
  hgvsp: ENSP00000469308.1:p.Glu236Lys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3132G>A
  hgvsp: ENST00000599857.1:c.3132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.476G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3132G>A
  hgvsp: ENST00000440232.2:c.3132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.340G>A
  hgvsp: ENST00000599632.1:c.340G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.3029G>A
  hgvsp: ENST00000600859.1:c.3029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3210G>A
  hgvsp: ENST00000595904.1:c.3210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.157G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17234
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu236Lys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-50920444-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920444
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920444
    reference: chr 19
allele count: 1
allele frequency: 1.570549063952758e-5
allele num: 63672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.709G>T
  hgvsp: ENSP00000469308.1:p.Cys237Phe
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.344G>T
  hgvsp: ENSP00000473233.1:p.Ala116Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.480G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3214G>T
  hgvsp: ENSP00000472445.1:p.Ala1072Ser
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.161G>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3136G>T
  hgvsp: ENSP00000406046.1:p.Ala1046Ser
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3136G>T
  hgvsp: ENSP00000473052.1:p.Ala1046Ser
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*3G>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala116Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-50920445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920445
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920445
    reference: chr 19
allele count: 1
allele frequency: 1.550291454793501e-5
allele num: 64504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3137C>T
  hgvsp: ENSP00000473052.1:p.Ala1046Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3137C>T
  hgvsp: ENSP00000406046.1:p.Ala1046Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.710C>T
  hgvsp: ENST00000593981.1:c.710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3215C>T
  hgvsp: ENSP00000472445.1:p.Ala1072Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.345C>T
  hgvsp: ENSP00000473233.1:p.Ala116Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.481C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.162C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala116Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

19-50920456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920456
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920456
    reference: chr 19
allele count: 2
allele frequency: 2.83077619883372e-5
allele num: 70652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3226C>T
  hgvsp: ENSP00000472445.1:p.Arg1076Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.356C>T
  hgvsp: ENSP00000473233.1:p.Arg120Cys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3148C>T
  hgvsp: ENSP00000473052.1:p.Arg1050Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.492C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.173C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.721C>T
  hgvsp: ENSP00000469308.1:p.Ala241Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3148C>T
  hgvsp: ENSP00000406046.1:p.Arg1050Cys
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg120Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

19-50920458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920458
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920458
    reference: chr 19
allele count: 1
allele frequency: 1.378663799045965e-5
allele num: 72534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.723C>T
  hgvsp: ENSP00000469308.1:p.Leu242Phe
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.494C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3228C>T
  hgvsp: ENST00000595904.1:c.3228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.358C>T
  hgvsp: ENST00000599632.1:c.358C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3150C>T
  hgvsp: ENST00000440232.2:c.3150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.175C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3150C>T
  hgvsp: ENST00000599857.1:c.3150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*17C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu242Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-50920464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920464
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920464
    reference: chr 19
allele count: 5
allele frequency: 6.602054559378878e-5
allele num: 75734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.500G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3156G>A
  hgvsp: ENST00000440232.2:c.3156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.729G>A
  hgvsp: ENSP00000469308.1:p.Ala244Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.364G>A
  hgvsp: ENST00000599632.1:c.364G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.181G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3156G>A
  hgvsp: ENST00000599857.1:c.3156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3234G>A
  hgvsp: ENST00000595904.1:c.3234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24317
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20886
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala244Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-50920465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920465
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920465
    reference: chr 19
allele count: 3
allele frequency: 3.95027915306015e-5
allele num: 75944
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.365C>T
  hgvsp: ENSP00000473233.1:p.Arg123Cys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3235C>T
  hgvsp: ENSP00000472445.1:p.Arg1079Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3157C>T
  hgvsp: ENSP00000406046.1:p.Arg1053Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.501C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.182C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.730C>T
  hgvsp: ENSP00000469308.1:p.Ala244Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3157C>T
  hgvsp: ENSP00000473052.1:p.Arg1053Cys
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg123Cys
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-50920472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920472
    reference: chr 19
allele count: 1
allele frequency: 1.249687578105474e-5
allele num: 80020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.372G>A
  hgvsp: ENSP00000473233.1:p.Trp125Ter
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.508G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.189G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3164G>A
  hgvsp: ENSP00000406046.1:p.Trp1055Ter
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*31G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3164G>A
  hgvsp: ENSP00000473052.1:p.Trp1055Ter
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3242G>A
  hgvsp: ENSP00000472445.1:p.Trp1081Ter
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.737G>A
  hgvsp: ENST00000593981.1:c.737G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp125Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

19-50920475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920475
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920475
    reference: chr 19
allele count: 2
allele frequency: 2.476718842876956e-5
allele num: 80752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.511C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3167C>T
  hgvsp: ENSP00000406046.1:p.Thr1056Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3167C>T
  hgvsp: ENSP00000473052.1:p.Thr1056Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.192C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.375C>T
  hgvsp: ENSP00000473233.1:p.Thr126Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3245C>T
  hgvsp: ENSP00000472445.1:p.Thr1082Met
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.740C>T
  hgvsp: ENST00000593981.1:c.740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26671
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr126Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-50920476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920476
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920476
    reference: chr 19
allele count: 1
allele frequency: 1.239618197595141e-5
allele num: 80670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.193G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.741G>A
  hgvsp: ENSP00000469308.1:p.Ala248Thr
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.376G>A
  hgvsp: ENST00000599632.1:c.376G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3168G>A
  hgvsp: ENST00000599857.1:c.3168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3168G>A
  hgvsp: ENST00000440232.2:c.3168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3246G>A
  hgvsp: ENST00000595904.1:c.3246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.512G>A
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/9175
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala248Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-50920477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920477
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920477
    reference: chr 19
allele count: 1
allele frequency: 1.232772011144259e-5
allele num: 81118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.513C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.742C>T
  hgvsp: ENSP00000469308.1:p.Ala248Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.377C>T
  hgvsp: ENSP00000473233.1:p.Gln127Ter
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3169C>T
  hgvsp: ENSP00000406046.1:p.Gln1057Ter
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3247C>T
  hgvsp: ENSP00000472445.1:p.Gln1083Ter
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3169C>T
  hgvsp: ENSP00000473052.1:p.Gln1057Ter
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.194C>T
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26546
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln127Ter
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-50920478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920478
    reference: chr 19
allele count: 1
allele frequency: 1.226422036351149e-5
allele num: 81538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3248A>G
  hgvsp: ENSP00000472445.1:p.Gln1083Arg
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.514A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.743A>G
  hgvsp: ENST00000593981.1:c.743A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.195A>G
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3170A>G
  hgvsp: ENSP00000473052.1:p.Gln1057Arg
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.378A>G
  hgvsp: ENSP00000473233.1:p.Gln127Arg
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3170A>G
  hgvsp: ENSP00000406046.1:p.Gln1057Arg
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*37A>G
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln127Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

19-50920486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50920486
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50920486
    reference: chr 19
allele count: 1
allele frequency: 1.256470824747449e-5
allele num: 79588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000597963
  gene symbol: POLD1
  hgvsc: ENST00000597963.1:n.522C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000469308
  ensembl transcript: ENST00000593981
  gene symbol: POLD1
  hgvsc: ENST00000593981.1:c.751C>T
  hgvsp: ENSP00000469308.1:p.Ala251Val
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000062822
  ensembl transcript: ENST00000596221
  gene symbol: POLD1
  hgvsc: ENST00000596221.1:n.203C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000470726
  ensembl transcript: ENST00000600859
  gene symbol: POLD1
  hgvsc: ENST00000600859.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142539
  ensembl protein: ENSP00000473233
  ensembl transcript: ENST00000599632
  gene symbol: CTD-2545M3.6
  hgvsc: ENST00000599632.1:c.386C>T
  hgvsp: ENSP00000473233.1:p.Arg130Cys
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000406046
  ensembl transcript: ENST00000440232
  gene symbol: POLD1
  hgvsc: ENST00000440232.2:c.3178C>T
  hgvsp: ENSP00000406046.1:p.Arg1060Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000473052
  ensembl transcript: ENST00000599857
  gene symbol: POLD1
  hgvsc: ENST00000599857.1:c.3178C>T
  hgvsp: ENSP00000473052.1:p.Arg1060Cys
  variant of: http://identifiers.org/hgnc/9175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062822
  ensembl protein: ENSP00000472445
  ensembl transcript: ENST00000595904
  gene symbol: POLD1
  hgvsc: ENST00000595904.1:c.3256C>T
  hgvsp: ENSP00000472445.1:p.Arg1086Cys
  variant of: http://identifiers.org/hgnc/9175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg130Cys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4750
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21727
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23849
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2412
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 644
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 6.276150627615063e-3
allele num: 478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.47e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 4.4644e5

MQ
type: SiteQuality
SIO_000300: 5.728e1

FS
type: SiteQuality
SIO_000300: 1.253e0

VQSLOD
type: SiteQuality
SIO_000300: -1.02e0

GenotypeQuality
all individuals: 722
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 20
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 21641
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24306
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2484
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 1.865671641791045e-2
allele num: 536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.46624e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.948e-1

FS
type: SiteQuality
SIO_000300: 9.069000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 729
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5328
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 19812
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 26485
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 172
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 387
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 795
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 587
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 53
allele frequency: 6.872406639004149e-3
allele num: 7712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.754385964912281e-3
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.429420505200594e-4
allele num: 1346
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.407009465336403e-3
allele num: 7818
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

DP
type: SiteQuality
SIO_000300: 4.62457e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.28e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.098e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19812
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5328
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.296680497925311e-4
allele num: 7712
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.28e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

DP
type: SiteQuality
SIO_000300: 4.62457e5

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 1435
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19569
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5411
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 7.352941176470588e-4
allele num: 1360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.295336787564767e-4
allele num: 7720
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.65255e5

FS
type: SiteQuality
SIO_000300: 1.591e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.98e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.801e1

VQSLOD
type: SiteQuality
SIO_000300: -2.456e0

GenotypeQuality
all individuals: 19416
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.085176709890668e-4
allele num: 7866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.069e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.897e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.96e-2

DP
type: SiteQuality
SIO_000300: 4.67601e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 2650
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19416
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26978
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 540
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5513
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

European (Finnish)
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: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.241927471435668e-4
allele num: 8052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1392
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.84e0

FS
type: SiteQuality
SIO_000300: 4.598e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.94e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 4.68754e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

GenotypeQuality
all individuals: 171
bin: 7.25e1
variant carriers: 4

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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variant carriers: 1

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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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

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

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

African
type: Population
allele count: 12
allele frequency: 8.4985835694051e-3
allele num: 1412
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.24e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.092e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 4.69213e5

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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bin: 2.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.220107369448512e-4
allele num: 8196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.784e0

QD
type: SiteQuality
SIO_000300: 3.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

DP
type: SiteQuality
SIO_000300: 4.7065e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.525890376357666e-4
allele num: 7918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.242544731610338e-4
allele num: 8048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.503e-1

FS
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 4.62411e5

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
all individuals: 8
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GenotypeQuality
all individuals: 12
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.386962552011096e-3
allele num: 1442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.055e1

MQ
type: SiteQuality
SIO_000300: 5.878e1

VQSLOD
type: SiteQuality
SIO_000300: -2.057e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 4.52787e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-2

FS
type: SiteQuality
SIO_000300: 5.664e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.66e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.4587e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.295336787564767e-3
allele num: 772
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 9.901e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.79e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.075e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.41094e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1420
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 602
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 744
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European (Finnish)
type: Population
allele count: 1
allele frequency: 8.771929824561403e-3
allele num: 114
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Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 2.56e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.32858e5

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.896e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.07e-2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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South Asian
type: Population
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allele frequency: 5.129520389843549e-4
allele num: 7798
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Other
type: Population
allele count: 1
allele frequency: 6.578947368421052e-3
allele num: 152
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.06662e5

FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.43e-1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.19e-1

DP
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InbreedingCoeff
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SIO_000300: -5.87e-2

BaseQRankSum
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SIO_000300: -7.4e-1

VQSLOD
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SIO_000300: 9.26e-1

ReadPosRankSum
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SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.134e1

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

African
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allele frequency: 0.0e0
allele num: 1222
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519756838905775e-4
allele num: 6580
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
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VQSLOD
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SIO_000300: -2.711e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 3.949e0

InbreedingCoeff
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SIO_000300: -6.25e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.89002e5

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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African
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allele frequency: 0.0e0
allele num: 1232
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 1.983e0

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

BaseQRankSum
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SIO_000300: -6.7e-2

VQSLOD
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SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.31e-2

ClippingRankSum
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SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 3.85227e5

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.660000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.061e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.75779e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.443e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 3.31227e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.52e-2

QD
type: SiteQuality
SIO_000300: 2.081e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

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

European (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: 4216
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.07e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.837929366231253e-4
allele num: 4134
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
allele num: 252
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South Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.18e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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variant carriers: 0

African
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allele count: 1
allele frequency: 1.644736842105263e-3
allele num: 608
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3308
num of homozygotes: 0

Other
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
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ClippingRankSum
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SIO_000300: -1.159e0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
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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 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 (Non-Finnish)
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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

DP
type: SiteQuality
SIO_000300: 1.48628e5

FS
type: SiteQuality
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QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: -9.65e-2

MQ
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SIO_000300: 6.0e1

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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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2506
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.886080724254998e-4
allele num: 5302
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 4.1e-2

MQ
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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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VQSLOD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.889644746787604e-4
allele num: 5292
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2508
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 1.55e0

FS
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QD
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ReadPosRankSum
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MQRankSum
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DP
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.028e-1

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

European (Non-Finnish)
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allele frequency: 1.258811681772407e-4
allele num: 7944
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele 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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.33e-2

QD
type: SiteQuality
SIO_000300: 1.25e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 5.56e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.72e-1

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

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

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

European (Non-Finnish)
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allele count: 6
allele frequency: 7.331378299120235e-4
allele num: 8184
num of homozygotes: 0

Latino
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allele frequency: 2.659574468085106e-3
allele num: 376
num of homozygotes: 0

African
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South Asian
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QD
type: SiteQuality
SIO_000300: 1.748e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.06054e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
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SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 7.048e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.88e-2

ReadPosRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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DP
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FS
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QD
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Latino
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European (Finnish)
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Other
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QD
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DP
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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South Asian
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African
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allele count: 1
allele frequency: 3.971405877680699e-4
allele num: 2518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.148e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.773e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 3.56525e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.55e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.07e0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.25e1
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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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bin: 3.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506024096385542e-3
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.488e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.668e0

DP
type: SiteQuality
SIO_000300: 4.0883e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.55e-2

QD
type: SiteQuality
SIO_000300: 1.193e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.271617497456765e-4
allele num: 7864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.634e0

VQSLOD
type: SiteQuality
SIO_000300: -1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 4.12258e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.55e-2

QD
type: SiteQuality
SIO_000300: 1.909e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.542588354945334e-4
allele num: 7866
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.15399e5

FS
type: SiteQuality
SIO_000300: 4.128e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.065e0

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.44e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 123
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.759398496240602e-4
allele num: 2660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.051e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
type: SiteQuality
SIO_000300: 4.30373e5

MQRankSum
type: SiteQuality
SIO_000300: -1.234e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 1.271e0

QD
type: SiteQuality
SIO_000300: 1.492e1

VQSLOD
type: SiteQuality
SIO_000300: -1.152e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.75e-2

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.41425e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.717472118959108e-4
allele num: 2690
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.219e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 2.843e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.31e-2

DP
type: SiteQuality
SIO_000300: 4.6078e5

VQSLOD
type: SiteQuality
SIO_000300: -5.094e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.7289e5

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.23334977799704e-4
allele num: 8108
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
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

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.618122977346278e-3
allele num: 618
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 2.13371266002845e-3
allele num: 2812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10492
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 5.00346e5

FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 22021
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.062322946175637e-3
allele num: 2824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10586
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 1.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.072e0

DP
type: SiteQuality
SIO_000300: 5.00625e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.46e0

GenotypeQuality
all individuals: 1086
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2876
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 9.727626459143969e-4
allele num: 1028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.264e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.434e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 5.06413e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 7.62e0

GenotypeQuality
all individuals: 2055
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 1.75e1
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: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 5
allele frequency: 6.313131313131313e-3
allele num: 792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 5.21618e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 6990
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.610297916307904e-5
allele num: 11614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.969e0

VQSLOD
type: SiteQuality
SIO_000300: -2.929e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

QD
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 5.28626e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
all individuals: 1054
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1623
bin: 2.5e0
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GenotypeQuality
all individuals: 891
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 160
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GenotypeQuality
all individuals: 5685
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 948
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.199409642505739e-5
allele num: 12196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3030
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 4.931e0

DP
type: SiteQuality
SIO_000300: 5.34591e5

GenotypeQuality
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 157
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 854
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GenotypeQuality
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 5912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.530120481927711e-4
allele num: 1328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.731e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 5.40211e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.393e0

QD
type: SiteQuality
SIO_000300: 4.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

GenotypeQuality
all individuals: 22520
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 100
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6324
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.590708972218005e-5
allele num: 13174
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.94912559618442e-4
allele num: 1258
num of homozygotes: 0

Other
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: 276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.48e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 5.45506e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
all individuals: 50
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 524
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GenotypeQuality
all individuals: 158
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variant carriers: 1

GenotypeQuality
all individuals: 1179
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1558
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 6.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.47906e5

GenotypeQuality
all individuals: 3159
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.75e1
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GenotypeQuality
all individuals: 15563
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 1345
bin: 2.75e1
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GenotypeQuality
all individuals: 921
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GenotypeQuality
all individuals: 6541
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.345379756133391e-5
allele num: 13614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 2.94e1

DP
type: SiteQuality
SIO_000300: 5.49198e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.05e-2

FS
type: SiteQuality
SIO_000300: 1.564e0

GenotypeQuality
all individuals: 1351
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 338
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3178
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13602
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.148633126579371e-4
allele num: 8706
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.5299e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 2.345e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 41

GenotypeQuality
all individuals: 2112
bin: 9.75e1
variant carriers: 2085

GenotypeQuality
all individuals: 91
bin: 8.75e1
variant carriers: 79

GenotypeQuality
all individuals: 1531
bin: 3.25e1
variant carriers: 73

GenotypeQuality
all individuals: 10785
bin: 7.5e0
variant carriers: 47

GenotypeQuality
all individuals: 6687
bin: 6.25e1
variant carriers: 62

GenotypeQuality
all individuals: 2497
bin: 1.75e1
variant carriers: 84

GenotypeQuality
all individuals: 716
bin: 3.75e1
variant carriers: 60

GenotypeQuality
all individuals: 135
bin: 8.25e1
variant carriers: 86

GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 71

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 41

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 75

South Asian
type: Population
allele count: 575
allele frequency: 6.231035977459905e-2
allele num: 9228
num of homozygotes: 15

Latino
type: Population
allele count: 93
allele frequency: 5.308219178082191e-2
allele num: 1752
num of homozygotes: 3

Other
type: Population
allele count: 10
allele frequency: 3.597122302158273e-2
allele num: 278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 209
allele frequency: 1.333588565594691e-2
allele num: 15672
num of homozygotes: 1

African
type: Population
allele count: 1696
allele frequency: 3.694989106753813e-1
allele num: 4590
num of homozygotes: 253

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 2.159827213822894e-3
allele num: 1852
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 6.10158e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.619e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.320000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 1050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1001
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2011
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1868
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.899705014749263e-5
allele num: 16950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.065416577881952e-4
allele num: 9386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2014
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 5.263157894736842e-3
allele num: 2090
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.355704697986577e-3
allele num: 298
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.356e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.21662e5

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8410
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.75e1
variant carriers: 8

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 8.557980316645272e-4
allele num: 4674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.146788990825688e-4
allele num: 17440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.35026e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

FS
type: SiteQuality
SIO_000300: 2.918e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.701e1

GenotypeQuality
all individuals: 2067
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2322
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.233700254022015e-4
allele num: 2362
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.50962e5

FS
type: SiteQuality
SIO_000300: 2.021e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 440
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1159
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.825554705432288e-4
allele num: 2614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.035002035002035e-4
allele num: 4914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.42671325956125e-4
allele num: 20604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.023541453428864e-4
allele num: 9770
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.82507e5

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

FS
type: SiteQuality
SIO_000300: 4.419e0

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 65
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 11157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21322
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.824858757062147e-3
allele num: 354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.013171225937183e-4
allele num: 9870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4958
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.452e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 6.96333e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28988
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19001
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
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: 4412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.10077519379845e-5
allele num: 32250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 1.2705e1

VQSLOD
type: SiteQuality
SIO_000300: -1.598e0

QD
type: SiteQuality
SIO_000300: 2.04e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 8.41889e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

GenotypeQuality
all individuals: 1653
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 319
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 575
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21019
bin: 6.25e1
variant carriers: 0

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

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

East Asian
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.933927942729726e-5
allele num: 34084
num of homozygotes: 0

DP
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BaseQRankSum
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MQ
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.891510525098311e-5
allele num: 34584
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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VQSLOD
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MQRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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African
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Other
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South Asian
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allele frequency: 8.441668073611346e-5
allele num: 11846
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European (Finnish)
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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: 2.601456815816858e-5
allele num: 38440
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

MQRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 39528
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Latino
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 514
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 8.326394671107411e-5
allele num: 12010
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MQRankSum
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SIO_000300: -6.2e-2

FS
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DP
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BaseQRankSum
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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SIO_000300: -5.5e-3

ReadPosRankSum
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SIO_000300: -5.29e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.570845114671693e-4
allele num: 6366
num of homozygotes: 0

Latino
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allele frequency: 2.799552071668533e-4
allele num: 7144
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.411498022571622e-5
allele num: 41468
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East Asian
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South Asian
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allele frequency: 8.172605426610003e-5
allele num: 12236
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Other
type: Population
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 534
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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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allele frequency: 1.736714136853074e-4
allele num: 5758
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.806074878646609e-5
allele num: 41614
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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European (Non-Finnish)
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allele frequency: 4.492161178743094e-5
allele num: 44522
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DP
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 302
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.237837353981113e-5
allele num: 44686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.000779e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: -1.826e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
SIO_000300: 7.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.796e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 388
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.226179875333927e-5
allele num: 44920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 5.756e0

QD
type: SiteQuality
SIO_000300: 4.35e0

VQSLOD
type: SiteQuality
SIO_000300: -1.958e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.00269e6

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

GenotypeQuality
all individuals: 283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23640
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.286132321338759e-5
allele num: 43742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2484
num of homozygotes: 0