http://identifiers.org/exac.variant/14-50114043-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114043
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114043
    reference: chr 14
allele count: 85
allele frequency: 7.035026153744289e-4
allele num: 120824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554671
  gene symbol: POLE2
  hgvsc: ENST00000554671.1:n.36T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1451T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2940T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1455T>G
  hgvsp: ENST00000539565.2:c.1455T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1533T>G
  hgvsp: ENST00000216367.5:c.1533T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000555724
  gene symbol: POLE2
  hgvsc: ENST00000555724.1:n.36T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.520T>G
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val511Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-50114045-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114045
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114043
    reference: chr 14
allele count: 3
allele frequency: 2.483279253029601e-5
allele num: 120808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.516_517delAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2936_393+2937delAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000555724
  gene symbol: POLE2
  hgvsc: ENST00000555724.1:n.32_33delAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1447_1448delAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554671
  gene symbol: POLE2
  hgvsc: ENST00000554671.1:n.32_33delAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1451_1452delAA
  hgvsp: ENSP00000446313.2:p.Lys484SerfsTer6
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1529_1530delAA
  hgvsp: ENSP00000216367.5:p.Lys510SerfsTer6
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys510SerfsTer6
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: CTT
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

14-50114047-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114047
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114047
    reference: chr 14
allele count: 2
allele frequency: 1.655848456749238e-5
allele num: 120784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000555724
  gene symbol: POLE2
  hgvsc: ENST00000555724.1:n.32A>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554671
  gene symbol: POLE2
  hgvsc: ENST00000554671.1:n.32A>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1451A>C
  hgvsp: ENSP00000446313.2:p.Lys484Thr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1447A>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1529A>C
  hgvsp: ENSP00000216367.5:p.Lys510Thr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.516A>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2936A>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys510Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

14-50114058-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114058
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114057
    reference: chr 14
allele count: 2
allele frequency: 1.657385308936622e-5
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1439delG
  hgvsp: ENSP00000446313.2:p.Gly480AspfsTer14
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1435delG
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2924delG
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.504delG
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554671
  gene symbol: POLE2
  hgvsc: ENST00000554671.1:n.20delG
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000555724
  gene symbol: POLE2
  hgvsc: ENST00000555724.1:n.20delG
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1517delG
  hgvsp: ENSP00000216367.5:p.Gly506AspfsTer14
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly506AspfsTer14
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: TC
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-50114075-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114075
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114075
    reference: chr 14
allele count: 2
allele frequency: 1.660412446451699e-5
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1501T>A
  hgvsp: ENSP00000216367.5:p.Ser501Thr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1423T>A
  hgvsp: ENSP00000446313.2:p.Ser475Thr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1419T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554671
  gene symbol: POLE2
  hgvsc: ENST00000554671.1:n.4T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000555724
  gene symbol: POLE2
  hgvsc: ENST00000555724.1:n.4T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2908T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.488T>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser501Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

14-50114077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114077
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114077
    reference: chr 14
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554671
  gene symbol: POLE2
  hgvsc: ENST00000554671.1:n.2G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1421G>A
  hgvsp: ENSP00000446313.2:p.Gly474Asp
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1417G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1499G>A
  hgvsp: ENSP00000216367.5:p.Gly500Asp
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.486G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2906G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000555724
  gene symbol: POLE2
  hgvsc: ENST00000555724.1:n.2G>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly500Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

14-50114081-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114081
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114081
    reference: chr 14
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-3A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-3A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-3A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2902A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-3A>G
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1498-3A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP

14-50114084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114084
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114084
    reference: chr 14
allele count: 25
allele frequency: 2.077792553191489e-4
allele num: 120320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2899C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-6C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-6C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-6C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-6C>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18377
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1498-6C>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

14-50114086-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114086
    reference: chr 14
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-8C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-8C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-8C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-8C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2897C>G
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1498-8C>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-50114094-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114094
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114094
    reference: chr 14
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-16T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2889T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-16T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-16T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-16T>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

14-50114106-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114106
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114106
    reference: chr 14
allele count: 4
allele frequency: 3.375071720274056e-5
allele num: 118516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-28C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-28C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-28C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-28C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2877C>G
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16029
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 565
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 428
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8684
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 204
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
  all individuals: 34570
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-50114111-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114111
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114111
    reference: chr 14
allele count: 1
allele frequency: 8.553734560509118e-6
allele num: 116908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2872G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-33G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-33G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-33G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-33G>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7165
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

14-50114111-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114111
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114111
    reference: chr 14
allele count: 7
allele frequency: 5.987614192356383e-5
allele num: 116908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-33G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-33G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2872G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-33G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-33G>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15157
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-50114112-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114112
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114112
    reference: chr 14
allele count: 1
allele frequency: 8.63751792284969e-6
allele num: 115774
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-34A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-34A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-34A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-34A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2871A>G
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13986
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

14-50114117-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114117
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114116
    reference: chr 14
allele count: 22005
allele frequency: 1.947379599638932e-1
allele num: 112998
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-40delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-40delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-40delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2865delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-40delA
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 318
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 2.75e1
  variant carriers: 3466
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.25e1
  variant carriers: 1871
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 2.25e1
  variant carriers: 4778
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.5e0
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 4.25e1
  variant carriers: 491
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 7.5e0
  variant carriers: 696
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 13106
  bin: 1.75e1
  variant carriers: 4472
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 986
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 1.25e1
  variant carriers: 2448
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.75e1
  variant carriers: 292
genotype quality: GenotypeQuality
  all individuals: 13593
  bin: 6.25e1
  variant carriers: 358
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 2.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.25e1
  variant carriers: 361
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.75e1
  variant carriers: 318
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 4.25e1
  variant carriers: 242
genotype quality: GenotypeQuality
  all individuals: 17427
  bin: 9.75e1
  variant carriers: 16321
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.75e1
  variant carriers: 266
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.25e1
  variant carriers: 217
genotype quality: GenotypeQuality
  all individuals: 9133
  bin: 2.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.5e0
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 3.75e1
  variant carriers: 144
num of homozygotes: 2510
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

14-50114117-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114117
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114115
    reference: chr 14
allele count: 3
allele frequency: 2.654914246269845e-5
allele num: 112998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-41_1416-40delAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-41_485-40delAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-41_1420-40delAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2864_393+2865delAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-41_1498-40delAA
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 9.25e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: CTT
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-50114125-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114125
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114125
    reference: chr 14
allele count: 1105
allele frequency: 1.023110255175734e-2
allele num: 108004
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-47A>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-47A>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-47A>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2858A>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-47A>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 2.25e1
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16437
  bin: 1.75e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 2.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 7.5e0
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 3.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 1.25e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.75e1
  variant carriers: 1024
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 8463
  bin: 6.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8445
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6547
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 4.75e1
  variant carriers: 4
num of homozygotes: 28
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

14-50114125-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114125
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114124
    reference: chr 14
allele count: 1
allele frequency: 9.258916336431984e-6
allele num: 108004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2857delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-48delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-48delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-48delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-48delT
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16437
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6547
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: TA
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-50114126-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50114126
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50114126
    reference: chr 14
allele count: 8
allele frequency: 7.3618728604557e-5
allele num: 108668
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1498-48T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1416-48T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.485-48T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1420-48T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+2857T>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16407
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6699
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

14-50116924-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116924
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116925
    reference: chr 14
allele count: 1
allele frequency: 1.169864295741694e-5
allele num: 85480
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*46dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+58dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+58dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+58dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.588dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+58dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+58dupT
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

14-50116924-TAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116924
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116920
    reference: chr 14
allele count: 1
allele frequency: 1.169864295741694e-5
allele num: 85480
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13106
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 704
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10146
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5278
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5304
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: TAAAA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

14-50116924-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116924
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116923
    reference: chr 14
allele count: 1
allele frequency: 1.169864295741694e-5
allele num: 85480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+58delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+58delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+58delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+58delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.588delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*46delT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+58delT
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: TA
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

14-50116928-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116928
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116928
    reference: chr 14
allele count: 1
allele frequency: 1.148791471372116e-5
allele num: 87048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+55T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.585T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+55T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*43T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+55T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+55T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+55T>A
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14677
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4756
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-50116933-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116933
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116933
    reference: chr 14
allele count: 1
allele frequency: 1.079493933244095e-5
allele num: 92636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+50G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.580G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+50G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+50G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+50G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+50G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*38G>C
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-50116934-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116934
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116934
    reference: chr 14
allele count: 1
allele frequency: 1.055877011445707e-5
allele num: 94708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+49T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+49T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+49T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*37T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+49T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+49T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.579T>A
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32735
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

14-50116935-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116935
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116935
    reference: chr 14
allele count: 1
allele frequency: 1.042057438205994e-5
allele num: 95964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+48G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*36G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+48G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.578G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+48G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+48G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+48G>C
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-50116935-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116935
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116934
    reference: chr 14
allele count: 1
allele frequency: 1.042057438205994e-5
allele num: 95964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+47delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+47delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.577delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+47delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+47delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*35delA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+47delA
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33706
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33209
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: CT
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

14-50116947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116947
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116947
    reference: chr 14
allele count: 3
allele frequency: 2.75477034397899e-5
allele num: 108902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+36A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.566A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+36A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+36A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+36A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+36A>G
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

14-50116949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116949
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116949
    reference: chr 14
allele count: 122
allele frequency: 1.106897240015243e-3
allele num: 110218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*22T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+34T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+34T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+34T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.564T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+34T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+34T>C
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 41436
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 9.75e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-50116950-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116950
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116950
    reference: chr 14
allele count: 1
allele frequency: 9.026411279403535e-6
allele num: 110786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+33T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+33T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+33T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+33T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*21T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.563T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+33T>G
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5204
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

14-50116951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116951
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116951
    reference: chr 14
allele count: 8
allele frequency: 7.191916286094429e-5
allele num: 111236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+32A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*20A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.562A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+32A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+32A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+32A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+32A>G
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41964
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

14-50116953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116953
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116953
    reference: chr 14
allele count: 4
allele frequency: 3.564299971485601e-5
allele num: 112224
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+30T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+30T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+30T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.560T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*18T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+30T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+30T>C
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

14-50116963-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116963
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116963
    reference: chr 14
allele count: 1
allele frequency: 8.639308855291577e-6
allele num: 115750
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+20T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+20T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*8T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+20T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+20T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+20T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.550T>C
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

14-50116965-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116965
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116965
    reference: chr 14
allele count: 1
allele frequency: 8.60096674866255e-6
allele num: 116266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+18C>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.548C>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+18C>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+18C>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+18C>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*6C>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+18C>A
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

14-50116966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116966
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116966
    reference: chr 14
allele count: 174
allele frequency: 1.493716090927821e-3
allele num: 116488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.393+17T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.547T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1497+17T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1419+17T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.484+17T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1415+17T>C
  variant of: http://identifiers.org/hgnc/9178
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 44430
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 9.75e1
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

14-50116991-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116991
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116991
    reference: chr 14
allele count: 24
allele frequency: 1.994283055241641e-4
allele num: 120344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1411A>G
  hgvsp: ENSP00000446313.2:p.Ile471Val
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.385A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1489A>G
  hgvsp: ENSP00000216367.5:p.Ile497Val
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.476A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1489A>G
  hgvsp: ENSP00000451621.1:p.Ile497Val
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1407A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.522A>G
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile497Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-50116993-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50116993
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50116993
    reference: chr 14
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1409G>C
  hgvsp: ENSP00000446313.2:p.Cys470Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1405G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1487G>C
  hgvsp: ENSP00000216367.5:p.Cys496Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.383G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1487G>C
  hgvsp: ENSP00000451621.1:p.Cys496Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.520G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.474G>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys496Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

14-50117000-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117000
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117000
    reference: chr 14
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.376T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1480T>A
  hgvsp: ENSP00000216367.5:p.Cys494Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1402T>A
  hgvsp: ENSP00000446313.2:p.Cys468Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1480T>A
  hgvsp: ENSP00000451621.1:p.Cys494Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1398T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.467T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.513T>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys494Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

14-50117003-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117003
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117003
    reference: chr 14
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.464G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.510G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1399G>C
  hgvsp: ENSP00000446313.2:p.Glu467Gln
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1477G>C
  hgvsp: ENSP00000451621.1:p.Glu493Gln
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1477G>C
  hgvsp: ENSP00000216367.5:p.Glu493Gln
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1395G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.373G>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5690
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu493Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-50117003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117003
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117003
    reference: chr 14
allele count: 2
allele frequency: 1.653849334325643e-5
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.464G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1399G>A
  hgvsp: ENSP00000446313.2:p.Glu467Lys
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1477G>A
  hgvsp: ENSP00000451621.1:p.Glu493Lys
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1477G>A
  hgvsp: ENSP00000216367.5:p.Glu493Lys
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.373G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.510G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1395G>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu493Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

14-50117004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117004
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117004
    reference: chr 14
allele count: 2
allele frequency: 1.653165812530997e-5
allele num: 120980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.463C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1476C>T
  hgvsp: ENST00000216367.5:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1398C>T
  hgvsp: ENST00000539565.2:c.1398C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1476C>T
  hgvsp: ENST00000554396.1:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.372C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1394C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.509C>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48311
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr492Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-50117004-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117004
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117004
    reference: chr 14
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1476C>A
  hgvsp: ENST00000216367.5:c.1476C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1398C>A
  hgvsp: ENST00000539565.2:c.1398C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.463C>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1394C>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1476C>A
  hgvsp: ENST00000554396.1:c.1476C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.509C>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.372C>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48311
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr492Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

14-50117005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117005
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117005
    reference: chr 14
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1475C>T
  hgvsp: ENSP00000451621.1:p.Thr492Ile
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1393C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1397C>T
  hgvsp: ENSP00000446313.2:p.Thr466Ile
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.508C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.371C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1475C>T
  hgvsp: ENSP00000216367.5:p.Thr492Ile
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.462C>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr492Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

14-50117009-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117009
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117009
    reference: chr 14
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1389A>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1471A>C
  hgvsp: ENSP00000216367.5:p.Asn491His
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1471A>C
  hgvsp: ENSP00000451621.1:p.Asn491His
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.458A>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.367A>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1393A>C
  hgvsp: ENSP00000446313.2:p.Asn465His
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.504A>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn491His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

14-50117014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117014
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117014
    reference: chr 14
allele count: 4
allele frequency: 3.299894403379092e-5
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.362C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.499C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1388C>T
  hgvsp: ENSP00000446313.2:p.Thr463Met
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1466C>T
  hgvsp: ENSP00000451621.1:p.Thr489Met
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1384C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.453C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1466C>T
  hgvsp: ENSP00000216367.5:p.Thr489Met
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46534
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr489Met
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-50117015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117015
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117015
    reference: chr 14
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1465A>G
  hgvsp: ENSP00000451621.1:p.Thr489Ala
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.498A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.452A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.361A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1383A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1387A>G
  hgvsp: ENSP00000446313.2:p.Thr463Ala
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1465A>G
  hgvsp: ENSP00000216367.5:p.Thr489Ala
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr489Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

14-50117017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117017
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117017
    reference: chr 14
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1463C>T
  hgvsp: ENSP00000451621.1:p.Thr488Ile
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1463C>T
  hgvsp: ENSP00000216367.5:p.Thr488Ile
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1381C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1385C>T
  hgvsp: ENSP00000446313.2:p.Thr462Ile
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.359C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.496C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.450C>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr488Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

14-50117037-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117037
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117037
    reference: chr 14
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1365A>G
  hgvsp: ENST00000539565.2:c.1365A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1443A>G
  hgvsp: ENST00000216367.5:c.1443A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.476A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.339A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.430A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1443A>G
  hgvsp: ENST00000554396.1:c.1443A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1361A>G
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala481Ala
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

14-50117054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117054
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117054
    reference: chr 14
allele count: 4
allele frequency: 3.296033224014898e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1426G>A
  hgvsp: ENSP00000451621.1:p.Asp476Asn
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1344G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.322G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.459G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1348G>A
  hgvsp: ENSP00000446313.2:p.Asp450Asn
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1426G>A
  hgvsp: ENSP00000216367.5:p.Asp476Asn
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.413G>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Asp476Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

14-50117055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117055
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117055
    reference: chr 14
allele count: 4
allele frequency: 3.296033224014898e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1425C>T
  hgvsp: ENST00000554396.1:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1343C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.458C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.412C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1425C>T
  hgvsp: ENST00000216367.5:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.321C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1347C>T
  hgvsp: ENST00000539565.2:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro475Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/14-50117061-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117061
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117061
    reference: chr 14
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.406T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.315T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.452T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1337T>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1419T>G
  hgvsp: ENST00000216367.5:c.1419T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1419T>G
  hgvsp: ENST00000554396.1:c.1419T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1341T>G
  hgvsp: ENST00000539565.2:c.1341T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro473Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

14-50117066-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117066
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117066
    reference: chr 14
allele count: 535
allele frequency: 4.40895305907173e-3
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.310T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1332T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1336T>C
  hgvsp: ENSP00000446313.2:p.Tyr446His
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1414T>C
  hgvsp: ENSP00000216367.5:p.Tyr472His
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.447T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1414T>C
  hgvsp: ENSP00000451621.1:p.Tyr472His
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.401T>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr472His
num of homozygotes: 6
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

14-50117069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117069
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117069
    reference: chr 14
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.444G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1333G>A
  hgvsp: ENSP00000446313.2:p.Val445Met
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.307G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1411G>A
  hgvsp: ENSP00000216367.5:p.Val471Met
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.398G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1411G>A
  hgvsp: ENSP00000451621.1:p.Val471Met
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1329G>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val471Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-50117073-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117073
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117074
    reference: chr 14
allele count: 16
allele frequency: 1.318630602119699e-4
allele num: 121338
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1324dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.302dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.439dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.393dupT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1406dupT
  hgvsp: ENSP00000451621.1:p.Leu469PhefsTer17
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1328dupT
  hgvsp: ENSP00000446313.2:p.Leu443PhefsTer17
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1406dupT
  hgvsp: ENSP00000216367.5:p.Leu469PhefsTer17
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu469PhefsTer17
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

14-50117073-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117073
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117073
    reference: chr 14
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1329G>C
  hgvsp: ENSP00000446313.2:p.Leu443Phe
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.394G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1325G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1407G>C
  hgvsp: ENSP00000216367.5:p.Leu469Phe
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.440G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1407G>C
  hgvsp: ENSP00000451621.1:p.Leu469Phe
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.303G>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu469Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

14-50117080-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117080
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117080
    reference: chr 14
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.296A>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.387A>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1400A>T
  hgvsp: ENSP00000451621.1:p.Tyr467Phe
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1322A>T
  hgvsp: ENSP00000446313.2:p.Tyr441Phe
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1400A>T
  hgvsp: ENSP00000216367.5:p.Tyr467Phe
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1318A>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.433A>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr467Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

14-50117080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117080
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117080
    reference: chr 14
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1318A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.387A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.433A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1322A>G
  hgvsp: ENSP00000446313.2:p.Tyr441Cys
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1400A>G
  hgvsp: ENSP00000216367.5:p.Tyr467Cys
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.296A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1400A>G
  hgvsp: ENSP00000451621.1:p.Tyr467Cys
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr467Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-50117090-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117090
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117090
    reference: chr 14
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1308G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.377G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1390G>T
  hgvsp: ENSP00000451621.1:p.Ala464Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.423G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1390G>T
  hgvsp: ENSP00000216367.5:p.Ala464Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.286G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1312G>T
  hgvsp: ENSP00000446313.2:p.Ala438Ser
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala464Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

14-50117093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117093
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117093
    reference: chr 14
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1309T>C
  hgvsp: ENSP00000446313.2:p.Trp437Arg
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.374T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1387T>C
  hgvsp: ENSP00000451621.1:p.Trp463Arg
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.420T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.283T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1305T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1387T>C
  hgvsp: ENSP00000216367.5:p.Trp463Arg
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48493
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp463Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

14-50117100-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117100
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117099
    reference: chr 14
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1379delC
  hgvsp: ENSP00000216367.5:p.Pro460GlnfsTer10
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1297delC
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1301delC
  hgvsp: ENSP00000446313.2:p.Pro434GlnfsTer10
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1379delC
  hgvsp: ENSP00000451621.1:p.Pro460GlnfsTer10
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.366delC
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.275delC
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.412delC
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48417
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro460GlnfsTer10
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: TG
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

14-50117104-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117104
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117104
    reference: chr 14
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.409G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1376G>C
  hgvsp: ENSP00000216367.5:p.Cys459Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1376G>C
  hgvsp: ENSP00000451621.1:p.Cys459Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1294G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1298G>C
  hgvsp: ENSP00000446313.2:p.Cys433Ser
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.363G>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.272G>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys459Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-50117104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117104
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117104
    reference: chr 14
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.409G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.272G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1298G>A
  hgvsp: ENSP00000446313.2:p.Cys433Tyr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1376G>A
  hgvsp: ENSP00000451621.1:p.Cys459Tyr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1294G>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1376G>A
  hgvsp: ENSP00000216367.5:p.Cys459Tyr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.363G>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys459Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

14-50117114-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117114
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117114
    reference: chr 14
allele count: 117
allele frequency: 9.678379988088148e-4
allele num: 120888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.262C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1288C>G
  hgvsp: ENSP00000446313.2:p.Leu430Val
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.353C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1284C>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1366C>G
  hgvsp: ENSP00000216367.5:p.Leu456Val
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1366C>G
  hgvsp: ENSP00000451621.1:p.Leu456Val
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.399C>G
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45667
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 9.75e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu456Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

14-50117121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117121
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117121
    reference: chr 14
allele count: 12
allele frequency: 9.944806324896822e-5
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1277C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1281C>T
  hgvsp: ENST00000539565.2:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1359C>T
  hgvsp: ENST00000554396.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.392C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1359C>T
  hgvsp: ENST00000216367.5:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.346C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.255C>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 9.75e1
  variant carriers: 12
hgvs: p.Pro453Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

14-50117125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117125
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117125
    reference: chr 14
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.251C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1355C>T
  hgvsp: ENSP00000451621.1:p.Thr452Ile
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.388C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1355C>T
  hgvsp: ENSP00000216367.5:p.Thr452Ile
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1277C>T
  hgvsp: ENSP00000446313.2:p.Thr426Ile
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1273C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.342C>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr452Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-50117130-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117130
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117130
    reference: chr 14
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1350T>C
  hgvsp: ENST00000216367.5:c.1350T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1350T>C
  hgvsp: ENST00000554396.1:c.1350T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.337T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.246T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1272T>C
  hgvsp: ENST00000539565.2:c.1272T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.383T>C
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1268T>C
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His450His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

14-50117132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117132
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117132
    reference: chr 14
allele count: 2
allele frequency: 1.66591700401486e-5
allele num: 120054
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1348C>T
  hgvsp: ENSP00000216367.5:p.His450Tyr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.335C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1348C>T
  hgvsp: ENSP00000451621.1:p.His450Tyr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1270C>T
  hgvsp: ENSP00000446313.2:p.His424Tyr
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.381C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1266C>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.244C>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His450Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

14-50117133-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117133
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117133
    reference: chr 14
allele count: 1
allele frequency: 8.334861391255063e-6
allele num: 119978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.243A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1347A>G
  hgvsp: ENST00000554396.1:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1347A>G
  hgvsp: ENST00000216367.5:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.334A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.380A>G
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1269A>G
  hgvsp: ENST00000539565.2:c.1269A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1265A>G
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly449Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-50117144-A-AACCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117144
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117149
    reference: chr 14
allele count: 1
allele frequency: 8.387010198604401e-6
allele num: 119232
alternate allele: AACCCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1335_1336insAGGGT
  hgvsp: ENSP00000451621.1:p.Leu446ArgfsTer8
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1335_1336insAGGGT
  hgvsp: ENSP00000216367.5:p.Leu446ArgfsTer8
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1257_1258insAGGGT
  hgvsp: ENSP00000446313.2:p.Leu420ArgfsTer8
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.322_323insAGGGT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.368_369insAGGGT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1253_1254insAGGGT
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.231_232insAGGGT
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Leu446ArgfsTer8
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

14-50117148-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117148
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117148
    reference: chr 14
allele count: 2
allele frequency: 1.685431133283894e-5
allele num: 118664
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1332T>A
  hgvsp: ENST00000216367.5:c.1332T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1254T>A
  hgvsp: ENST00000539565.2:c.1254T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.365T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1250T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.319T>A
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1332T>A
  hgvsp: ENST00000554396.1:c.1332T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.228T>A
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr444Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

14-50117155-A-ATTTAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117155
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117160
    reference: chr 14
allele count: 1
allele frequency: 8.45394291897741e-6
allele num: 118288
alternate allele: ATTTAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.311_312insATAAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.220_221insATAAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1324_1325insATAAA
  hgvsp: ENSP00000216367.5:p.Val442AspfsTer3
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1246_1247insATAAA
  hgvsp: ENSP00000446313.2:p.Val416AspfsTer3
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1324_1325insATAAA
  hgvsp: ENSP00000451621.1:p.Val442AspfsTer3
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.357_358insATAAA
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1242_1243insATAAA
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 42925
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val442AspfsTer3
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-50117163-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50117163
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50117163
    reference: chr 14
allele count: 1
allele frequency: 8.536647829130458e-6
allele num: 117142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000446313
  ensembl transcript: ENST00000539565
  gene symbol: POLE2
  hgvsc: ENST00000539565.2:c.1243-4G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554851
  gene symbol: POLE2
  hgvsc: ENST00000554851.1:n.217-4G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556937
  gene symbol: POLE2
  hgvsc: ENST00000556937.1:n.308-4G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000556584
  gene symbol: POLE2
  hgvsc: ENST00000556584.1:n.1239-4G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl transcript: ENST00000554377
  gene symbol: POLE2
  hgvsc: ENST00000554377.1:n.354-4G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000451621
  ensembl transcript: ENST00000554396
  gene symbol: POLE2
  hgvsc: ENST00000554396.1:c.1321-4G>T
  variant of: http://identifiers.org/hgnc/9178
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100479
  ensembl protein: ENSP00000216367
  ensembl transcript: ENST00000216367
  gene symbol: POLE2
  hgvsc: ENST00000216367.5:c.1321-4G>T
  variant of: http://identifiers.org/hgnc/9178
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1321-4G>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

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

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1653
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 9.75e1
variant carriers: 85

GenotypeQuality
all individuals: 43349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.113468357473406e-4
allele num: 66556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 31
allele frequency: 4.68702751738736e-3
allele num: 6614
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.94e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 1.908166e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508024283224139e-5
allele num: 66548
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

DP
type: SiteQuality
SIO_000300: 1.904511e6

FS
type: SiteQuality
SIO_000300: 1.146e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.741e1

MQ
type: SiteQuality
SIO_000300: 6.018e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 1.904169e6

QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.21e-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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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.002402883460152e-4
allele num: 9988
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.901168e6

MQ
type: SiteQuality
SIO_000300: 6.028e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.299e0

QD
type: SiteQuality
SIO_000300: 1.401e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013591296748335e-5
allele num: 66366
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.242e0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.057e1

MQ
type: SiteQuality
SIO_000300: 6.041e1

FS
type: SiteQuality
SIO_000300: 9.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

DP
type: SiteQuality
SIO_000300: 1.895693e6

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-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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bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.009081735620585e-4
allele num: 9910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.12e-1

DP
type: SiteQuality
SIO_000300: 1.894941e6

FS
type: SiteQuality
SIO_000300: 1.532e0

QD
type: SiteQuality
SIO_000300: 1.285e1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 10109
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.010509296685529e-4
allele num: 9896
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

FS
type: SiteQuality
SIO_000300: 1.568e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.955e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

DP
type: SiteQuality
SIO_000300: 1.892936e6

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
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variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 42635
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GenotypeQuality
all individuals: 63
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variant carriers: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.863064741499767e-3
allele num: 8588
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.010917913465427e-4
allele num: 9892
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.595155709342561e-4
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.032636563810213e-5
allele num: 66306
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.715e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.343e1

DP
type: SiteQuality
SIO_000300: 1.89236e6

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.775e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.890007e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.034e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9999
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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DP
type: SiteQuality
SIO_000300: 1.881935e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 1.325e1

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

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

GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.135722174499939e-5
allele num: 65192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
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South Asian
type: Population
allele count: 0
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allele num: 16304
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Other
type: Population
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16220
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559770401796856e-5
allele num: 64112
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 888
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
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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Other
type: Population
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
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East Asian
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African
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allele frequency: 6.399317406143345e-4
allele num: 9376
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European (Finnish)
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64112
num of homozygotes: 0

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

GenotypeQuality
all individuals: 1464
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577685220244857e-5
allele num: 63384
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

VQSLOD
type: SiteQuality
SIO_000300: -2.266e0

QD
type: SiteQuality
SIO_000300: 1.062e1

DP
type: SiteQuality
SIO_000300: 1.702074e6

GenotypeQuality
all individuals: 584
bin: 9.25e1
variant carriers: 364

GenotypeQuality
all individuals: 3461
bin: 3.25e1
variant carriers: 163

GenotypeQuality
all individuals: 644
bin: 8.25e1
variant carriers: 263

GenotypeQuality
all individuals: 3192
bin: 6.75e1
variant carriers: 271

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 346

East Asian
type: Population
allele count: 232
allele frequency: 2.874845105328377e-2
allele num: 8070
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 13312
allele frequency: 2.159006130591326e-1
allele num: 61658
num of homozygotes: 1421

Latino
type: Population
allele count: 3593
allele frequency: 3.242779783393502e-1
allele num: 11080
num of homozygotes: 571

African
type: Population
allele count: 2431
allele frequency: 2.688564476885645e-1
allele num: 9042
num of homozygotes: 326

South Asian
type: Population
allele count: 994
allele frequency: 6.283185840707965e-2
allele num: 15820
num of homozygotes: 53

European (Finnish)
type: Population
allele count: 1288
allele frequency: 1.993808049535604e-1
allele num: 6460
num of homozygotes: 122

Other
type: Population
allele count: 155
allele frequency: 1.785714285714286e-1
allele num: 868
num of homozygotes: 15

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.29e-2

DP
type: SiteQuality
SIO_000300: 1.435679e6

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.55e0

MQ
type: SiteQuality
SIO_000300: 6.031e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.435e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

GenotypeQuality
all individuals: 13593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17427
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621849557235071e-5
allele num: 61658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.211900022119e-4
allele num: 9042
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.55e0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQ
type: SiteQuality
SIO_000300: 6.031e1

DP
type: SiteQuality
SIO_000300: 1.435679e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.29e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeQuality
all individuals: 2392
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2330
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 12485
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 888
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 15

South Asian
type: Population
allele count: 151
allele frequency: 9.678246378669401e-3
allele num: 15602
num of homozygotes: 3

African
type: Population
allele count: 523
allele frequency: 6.151493766172665e-2
allele num: 8502
num of homozygotes: 22

European (Finnish)
type: Population
allele count: 187
allele frequency: 2.978655622809812e-2
allele num: 6278
num of homozygotes: 2

East Asian
type: Population
allele count: 4
allele frequency: 5.239717055279015e-4
allele num: 7634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 177
allele frequency: 3.041132607126903e-3
allele num: 58202
num of homozygotes: 1

Latino
type: Population
allele count: 56
allele frequency: 5.125388980413692e-3
allele num: 10926
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 8.13953488372093e-3
allele num: 860
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 1.270355e6

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.033e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
all individuals: 546
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8445
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15602
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.033e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

DP
type: SiteQuality
SIO_000300: 1.270355e6

QD
type: SiteQuality
SIO_000300: 1.303e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 1130
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 9.75e1
variant carriers: 7

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15582
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.618486514794449e-4
allele num: 7638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.137426900584795e-5
allele num: 10944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.512376996152405e-5
allele num: 58738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.267517e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

GenotypeQuality
all individuals: 5897
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9583
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.066628089608994e-5
allele num: 48388
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 9.71935e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.066628089608994e-5
allele num: 48388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 9.71935e5

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.134e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3382
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5897
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.066628089608994e-5
allele num: 48388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 9.71935e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 1820
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.10692937790569e-4
allele num: 9034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.057371e6

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
SIO_000300: 9.16e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 1006
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4373
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52346
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.587805652588123e-4
allele num: 6298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.529e0

VQSLOD
type: SiteQuality
SIO_000300: -7.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.388e1

DP
type: SiteQuality
SIO_000300: 1.157324e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e0

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.872659176029963e-5
allele num: 53400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 1.178523e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 795
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 1208
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.480165778567199e-4
allele num: 6756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

FS
type: SiteQuality
SIO_000300: 2.205e0

QD
type: SiteQuality
SIO_000300: 1.7e1

DP
type: SiteQuality
SIO_000300: 1.194403e6

MQ
type: SiteQuality
SIO_000300: 5.803e1

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

GenotypeQuality
all individuals: 111
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1951
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.305483028720627e-3
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

FS
type: SiteQuality
SIO_000300: 2.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.194403e6

QD
type: SiteQuality
SIO_000300: 1.7e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.803e1

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

GenotypeQuality
all individuals: 1286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 5161
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.893804443574435e-5
allele num: 61302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.310212e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

FS
type: SiteQuality
SIO_000300: 1.2928e1

QD
type: SiteQuality
SIO_000300: 1.754e1

GenotypeQuality
all individuals: 690
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 101
allele frequency: 1.071504349671122e-2
allele num: 9426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.148612829121753e-3
allele num: 11318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.838085408334408e-5
allele num: 62008
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.226542688081149e-4
allele num: 11830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 1.324487e6

QD
type: SiteQuality
SIO_000300: 1.675e1

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4867
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 702
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603797793174237e-5
allele num: 62352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.329048e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

FS
type: SiteQuality
SIO_000300: 1.1384e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.823e0

MQRankSum
type: SiteQuality
SIO_000300: -1.987e0

QD
type: SiteQuality
SIO_000300: 1.642e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42432
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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: 2031
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 852
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.278159450391436e-4
allele num: 62590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.333442e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.922e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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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variant carriers: 0

GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.122861265718408e-4
allele num: 9702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63132
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.169e0

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

QD
type: SiteQuality
SIO_000300: 1.656e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.08e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.342042e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 2026
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 872
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GenotypeQuality
all individuals: 219
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variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539456264047538e-5
allele num: 64958
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.373616e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

FS
type: SiteQuality
SIO_000300: 1.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.298e0

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 1.57e1

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

GenotypeQuality
all individuals: 204
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 2.25e1
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GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 27
bin: 1.25e1
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GenotypeQuality
all individuals: 2026
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1166
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GenotypeQuality
all individuals: 1309
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variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.426110203475419e-5
allele num: 13466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: 9.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 1.379065e6

QD
type: SiteQuality
SIO_000300: 1.331e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.928e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5422
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.83289817232376e-4
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532003554248246e-5
allele num: 65274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 164
allele frequency: 1.617038059554329e-2
allele num: 10142
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

DP
type: SiteQuality
SIO_000300: 1.388625e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

QD
type: SiteQuality
SIO_000300: 1.542e1

GenotypeQuality
all individuals: 2069
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47756
bin: 6.25e1
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GenotypeQuality
all individuals: 1204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.161603083315769e-4
allele num: 66422
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15820
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.423612e6

FS
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

QD
type: SiteQuality
SIO_000300: 1.454e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 47785
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.047e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.571e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 1.424064e6

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

GenotypeQuality
all individuals: 48185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 1206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
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variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.428568e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.429e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -1.022e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e0

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.405e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

FS
type: SiteQuality
SIO_000300: 3.527e0

DP
type: SiteQuality
SIO_000300: 1.430393e6

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5690
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.232893601282209e-4
allele num: 16222
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

FS
type: SiteQuality
SIO_000300: 3.527e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.231e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.405e0

DP
type: SiteQuality
SIO_000300: 1.430393e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
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variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 9.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

DP
type: SiteQuality
SIO_000300: 1.430906e6

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 9.99e-1

DP
type: SiteQuality
SIO_000300: 1.430906e6

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 208
bin: 2.25e1
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 5705
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
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GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.963e0

DP
type: SiteQuality
SIO_000300: 1.431201e6

VQSLOD
type: SiteQuality
SIO_000300: -8.717e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.778e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.074e1

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

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

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

Other
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MQRankSum
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SIO_000300: -3.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
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FS
type: SiteQuality
SIO_000300: 1.547e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e-1

DP
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SIO_000300: 1.432291e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-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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variant carriers: 4

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001020346917952e-5
allele num: 66644
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 1.972e0

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.054e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

DP
type: SiteQuality
SIO_000300: 1.433894e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 1.216249087813184e-4
allele num: 16444
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.433821e6

FS
type: SiteQuality
SIO_000300: 4.333e0

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.275e0

QD
type: SiteQuality
SIO_000300: 1.471e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.991e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

DP
type: SiteQuality
SIO_000300: 1.434237e6

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.944e0

MQRankSum
type: SiteQuality
SIO_000300: -1.995e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.173e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.145e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.435297e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

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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bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.11e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

DP
type: SiteQuality
SIO_000300: 1.435826e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-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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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.185e0

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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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allele num: 8652
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South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.43559e6

BaseQRankSum
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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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GenotypeQuality
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bin: 9.75e1
variant carriers: 528

Latino
type: Population
allele count: 21
allele frequency: 1.815666609026457e-3
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.73176832788147e-3
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 184
allele frequency: 2.758289860286622e-3
allele num: 66708
num of homozygotes: 1

South Asian
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allele count: 110
allele frequency: 6.665858683795904e-3
allele num: 16502
num of homozygotes: 2

Other
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allele frequency: 5.506607929515419e-3
allele num: 908
num of homozygotes: 0

East Asian
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allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 192
allele frequency: 2.903811252268602e-2
allele num: 6612
num of homozygotes: 3

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.81e-2

FS
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.440075e6

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 9.198e0

ClippingRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.884e1

MQRankSum
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QD
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SIO_000300: 7.21e0

VQSLOD
type: SiteQuality
SIO_000300: -1.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

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
all individuals: 1359
bin: 7.75e1
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European (Finnish)
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allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16500
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European (Non-Finnish)
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allele count: 13
allele frequency: 1.948967047464844e-4
allele num: 66702
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.64e-1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
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MQ
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SIO_000300: 6.003e1

QD
type: SiteQuality
SIO_000300: 1.325e1

DP
type: SiteQuality
SIO_000300: 1.441788e6

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10394
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.003e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.441788e6

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

Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
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Other
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allele frequency: 0.0e0
allele num: 908
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African
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allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.91e0

VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.455e0

QD
type: SiteQuality
SIO_000300: 1.389e1

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

MQRankSum
type: SiteQuality
SIO_000300: -3.43e-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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bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.918e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
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SIO_000300: 3.52e0

InbreedingCoeff
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SIO_000300: 0.0e0

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.440335e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.389e1

MQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.455e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

South Asian
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.278e-1

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

FS
type: SiteQuality
SIO_000300: 3.624e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.989e0

ReadPosRankSum
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SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.43963e6

QD
type: SiteQuality
SIO_000300: 1.61e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
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variant carriers: 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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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.28e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

DP
type: SiteQuality
SIO_000300: 1.439323e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

East Asian
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allele num: 8650
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 1.438569e6

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 10380
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66638
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele num: 6612
num of homozygotes: 0

South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele num: 66638
num of homozygotes: 0

Other
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66546
num of homozygotes: 0

Latino
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allele frequency: 1.038421599169263e-3
allele num: 11556
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East Asian
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South Asian
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African
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allele count: 97
allele frequency: 9.35751495273008e-3
allele num: 10366
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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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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variant carriers: 0

Other
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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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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.388567461235825e-3
allele num: 8642
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South Asian
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FS
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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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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Latino
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allele frequency: 0.0e0
allele num: 11546
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
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allele frequency: 6.230529595015576e-5
allele num: 16050
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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 frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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QD
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MQRankSum
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MQ
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BaseQRankSum
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FS
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VQSLOD
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DP
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SIO_000300: 1.425859e6

InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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SIO_000300: 3.2e-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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variant carriers: 0

South Asian
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allele frequency: 6.316321374431532e-5
allele num: 15832
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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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: 66358
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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SIO_000300: -9.724e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 2.762e0

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

DP
type: SiteQuality
SIO_000300: 1.42147e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

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

Latino
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allele frequency: 8.664009703690868e-5
allele num: 11542
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African
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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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East Asian
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allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15730
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQRankSum
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BaseQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.41803e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.87e-2

FS
type: SiteQuality
SIO_000300: 1.052e1

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -1.483e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.536e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.568575932737782e-5
allele num: 15224
num of homozygotes: 0

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
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SIO_000300: 5.376e1

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65880
num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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South Asian
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allele num: 14882
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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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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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele num: 65766
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South Asian
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Latino
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Other
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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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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African
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East Asian
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European (Non-Finnish)
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allele num: 65422
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South Asian
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European (Finnish)
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Latino
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Other
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BaseQRankSum
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MQ
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ClippingRankSum
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