12-133236074-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236072
    reference: chr 12
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3080_3081delCT
  hgvsp: ENSP00000322570.5:p.Ser1027Ter
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.11_12delCT
  hgvsp: ENSP00000439052.1:p.Ser4Ter
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2127_*2128delCT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2999_3000delCT
  hgvsp: ENSP00000445753.1:p.Ser1000Ter
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2420_2421delCT
  hgvsp: ENSP00000442519.1:p.Ser807Ter
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1027Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: CAG
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-133236077-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236077
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236077
    reference: chr 12
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2998T>C
  hgvsp: ENSP00000445753.1:p.Ser1000Pro
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2126T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.10T>C
  hgvsp: ENSP00000439052.1:p.Ser4Pro
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3079T>C
  hgvsp: ENSP00000322570.5:p.Ser1027Pro
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2419T>C
  hgvsp: ENSP00000442519.1:p.Ser807Pro
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1027Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-133236087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236087
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236087
    reference: chr 12
allele count: 1
allele frequency: 8.328475056217207e-6
allele num: 120070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2116C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2988C>T
  hgvsp: ENST00000535270.1:c.2988C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2409C>T
  hgvsp: ENST00000539006.1:c.2409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3069C>T
  hgvsp: ENST00000320574.5:c.3069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17521
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 101
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
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genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 257
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn1023Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-133236088-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236088
    reference: chr 12
allele count: 1
allele frequency: 8.337919188887221e-6
allele num: 119934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3068A>G
  hgvsp: ENSP00000322570.5:p.Asn1023Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2115A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2987A>G
  hgvsp: ENSP00000445753.1:p.Asn996Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2408A>G
  hgvsp: ENSP00000442519.1:p.Asn803Ser
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28886
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10169
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn1023Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

12-133236089-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236089
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236089
    reference: chr 12
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3067A>C
  hgvsp: ENSP00000322570.5:p.Asn1023His
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2986A>C
  hgvsp: ENSP00000445753.1:p.Asn996His
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2114A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2407A>C
  hgvsp: ENSP00000442519.1:p.Asn803His
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn1023His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-133236091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236091
    reference: chr 12
allele count: 7
allele frequency: 5.871399573904145e-5
allele num: 119222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2984C>T
  hgvsp: ENSP00000445753.1:p.Ala995Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2112C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2405C>T
  hgvsp: ENSP00000442519.1:p.Ala802Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3065C>T
  hgvsp: ENSP00000322570.5:p.Ala1022Val
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1022Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-133236099-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236099
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236099
    reference: chr 12
allele count: 2
allele frequency: 1.698225354504543e-5
allele num: 117770
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-4C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-4C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-4C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-4C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
hgvs: c.3061-4C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-133236105-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236105
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236105
    reference: chr 12
allele count: 1
allele frequency: 8.618015098762453e-6
allele num: 116036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-10C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-10C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-10C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-19C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-10C>G
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

12-133236106-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236106
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236106
    reference: chr 12
allele count: 1
allele frequency: 8.66836566633727e-6
allele num: 115362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-11T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-20T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-11T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-11T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-11T>C
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5384
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-133236107-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236107
    reference: chr 12
allele count: 2
allele frequency: 1.734244389719399e-5
allele num: 115324
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-12G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-12G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-12G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-21G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-12G>C
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-133236107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236107
    reference: chr 12
allele count: 1
allele frequency: 8.671221948596997e-6
allele num: 115324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-12G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-12G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-12G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-12G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15254
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38359
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

12-133236110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236110
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236110
    reference: chr 12
allele count: 1
allele frequency: 8.738050715646353e-6
allele num: 114442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-15A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-15A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-24A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-15A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-15A>G
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-133236120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236120
    reference: chr 12
allele count: 1
allele frequency: 8.955116953827417e-6
allele num: 111668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-25T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-34T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-25T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-25T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-25T>C
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 245
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 16109
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 4852
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 5387
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 297
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genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3949
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genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 592
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genotype quality: GenotypeQuality
  all individuals: 26239
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-133236124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236124
    reference: chr 12
allele count: 1
allele frequency: 9.068485200232153e-6
allele num: 110272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-29G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-29G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-29G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-29G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13294
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3795
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genotype quality: GenotypeQuality
  all individuals: 293
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 842
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 370
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genotype quality: GenotypeQuality
  all individuals: 1086
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genotype quality: GenotypeQuality
  all individuals: 112
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

12-133236135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236135
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236135
    reference: chr 12
allele count: 1
allele frequency: 9.42933655188021e-6
allele num: 106052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-40C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-49C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-40C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-40C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-40C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20985
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-133236138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133236138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133236138
    reference: chr 12
allele count: 1
allele frequency: 9.648039518369867e-6
allele num: 103648
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3061-43G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2980-43G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2401-43G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000439052
  ensembl transcript: ENST00000536445
  gene symbol: POLE
  hgvsc: ENST00000536445.1:c.-52G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2108-43G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-133237504-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237504
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237504
    reference: chr 12
allele count: 3
allele frequency: 2.687497760418533e-5
allele num: 111628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2400+51C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3060+51C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2107+51C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2979+51C>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7945
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45962
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-133237512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237512
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237512
    reference: chr 12
allele count: 1
allele frequency: 8.953834031732387e-6
allele num: 111684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2107+43G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2979+43G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3060+43G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2400+43G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7945
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45966
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

12-133237516-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237516
    reference: chr 12
allele count: 1
allele frequency: 8.944863859172063e-6
allele num: 111796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2400+39T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2979+39T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2107+39T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3060+39T>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7945
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-133237524-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237524
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237524
    reference: chr 12
allele count: 2
allele frequency: 1.784121320249777e-5
allele num: 112100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2400+31C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2107+31C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3060+31C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2979+31C>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45964
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-133237543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237543
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237543
    reference: chr 12
allele count: 1
allele frequency: 8.824100382965956e-6
allele num: 113326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2107+12C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2400+12C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2979+12C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3060+12C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-133237553-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237553
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237553
    reference: chr 12
allele count: 1
allele frequency: 8.730117158172262e-6
allele num: 114546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2107+2T>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2400+2T>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3060+2T>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2979+2T>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45965
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
hgvs: c.3060+2T>G
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-133237560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237560
    reference: chr 12
allele count: 1
allele frequency: 8.643640009680878e-6
allele num: 115692
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3055A>G
  hgvsp: ENSP00000322570.5:p.Ser1019Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2395A>G
  hgvsp: ENSP00000442519.1:p.Ser799Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2102A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2974A>G
  hgvsp: ENSP00000445753.1:p.Ser992Gly
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1019Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-133237561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237561
    reference: chr 12
allele count: 14
allele frequency: 1.209127182906396e-4
allele num: 115786
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3054C>T
  hgvsp: ENST00000320574.5:c.3054C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2973C>T
  hgvsp: ENST00000535270.1:c.2973C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2394C>T
  hgvsp: ENST00000539006.1:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2101C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45965
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr1018Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

12-133237566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237566
    reference: chr 12
allele count: 18
allele frequency: 1.544878727019929e-4
allele num: 116514
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3049C>T
  hgvsp: ENST00000320574.5:c.3049C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2389C>T
  hgvsp: ENST00000539006.1:c.2389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2096C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2968C>T
  hgvsp: ENST00000535270.1:c.2968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1017Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-133237567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237567
    reference: chr 12
allele count: 1
allele frequency: 8.573241199567908e-6
allele num: 116642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2095G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2388G>A
  hgvsp: ENST00000539006.1:c.2388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3048G>A
  hgvsp: ENST00000320574.5:c.3048G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2967G>A
  hgvsp: ENST00000535270.1:c.2967G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val1016Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

12-133237569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237569
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237569
    reference: chr 12
allele count: 118
allele frequency: 1.007840658683658e-3
allele num: 117082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3046G>A
  hgvsp: ENSP00000322570.5:p.Val1016Met
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2386G>A
  hgvsp: ENSP00000442519.1:p.Val796Met
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2965G>A
  hgvsp: ENSP00000445753.1:p.Val989Met
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2093G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 9.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45966
  bin: 9.75e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val1016Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-133237570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237570
    reference: chr 12
allele count: 1
allele frequency: 8.506584096090374e-6
allele num: 117556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2385C>T
  hgvsp: ENST00000539006.1:c.2385C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2964C>T
  hgvsp: ENST00000535270.1:c.2964C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3045C>T
  hgvsp: ENST00000320574.5:c.3045C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2092C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp1015Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

12-133237570-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237570
    reference: chr 12
allele count: 1
allele frequency: 8.506584096090374e-6
allele num: 117556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2092C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2385C>A
  hgvsp: ENSP00000442519.1:p.Asp795Glu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3045C>A
  hgvsp: ENSP00000322570.5:p.Asp1015Glu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2964C>A
  hgvsp: ENSP00000445753.1:p.Asp988Glu
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45953
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp1015Glu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-133237577-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237577
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237577
    reference: chr 12
allele count: 1
allele frequency: 8.413259296651523e-6
allele num: 118860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2957G>C
  hgvsp: ENSP00000445753.1:p.Trp986Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2378G>C
  hgvsp: ENSP00000442519.1:p.Trp793Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3038G>C
  hgvsp: ENSP00000322570.5:p.Trp1013Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2085G>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7069
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp1013Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

12-133237596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237596
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237596
    reference: chr 12
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2938G>C
  hgvsp: ENSP00000445753.1:p.Ala980Pro
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2359G>C
  hgvsp: ENSP00000442519.1:p.Ala787Pro
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3019G>C
  hgvsp: ENSP00000322570.5:p.Ala1007Pro
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2066G>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45953
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1007Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-133237600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237600
    reference: chr 12
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2062T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2934T>C
  hgvsp: ENST00000535270.1:c.2934T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2355T>C
  hgvsp: ENST00000539006.1:c.2355T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.3015T>C
  hgvsp: ENST00000320574.5:c.3015T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1005Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

12-133237621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237621
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237621
    reference: chr 12
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2913G>A
  hgvsp: ENST00000535270.1:c.2913G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2041G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2334G>A
  hgvsp: ENST00000539006.1:c.2334G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2994G>A
  hgvsp: ENST00000320574.5:c.2994G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45953
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr998Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-133237624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237624
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237624
    reference: chr 12
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2910C>T
  hgvsp: ENST00000535270.1:c.2910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2038C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2991C>T
  hgvsp: ENST00000320574.5:c.2991C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2331C>T
  hgvsp: ENST00000539006.1:c.2331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser997Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-133237633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237633
    reference: chr 12
allele count: 18
allele frequency: 1.48326383967566e-4
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2982C>T
  hgvsp: ENST00000320574.5:c.2982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2029C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2901C>T
  hgvsp: ENST00000535270.1:c.2901C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2322C>T
  hgvsp: ENST00000539006.1:c.2322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45955
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu994Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-133237641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237641
    reference: chr 12
allele count: 42
allele frequency: 3.4610630407911e-4
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2893G>A
  hgvsp: ENSP00000445753.1:p.Ala965Thr
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2974G>A
  hgvsp: ENSP00000322570.5:p.Ala992Thr
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2021G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2314G>A
  hgvsp: ENSP00000442519.1:p.Ala772Thr
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9088
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala992Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-133237650-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237650
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237650
    reference: chr 12
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2965G>T
  hgvsp: ENSP00000322570.5:p.Val989Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2305G>T
  hgvsp: ENSP00000442519.1:p.Val769Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2012G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2884G>T
  hgvsp: ENSP00000445753.1:p.Val962Leu
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val989Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-133237651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237651
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237651
    reference: chr 12
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2304G>A
  hgvsp: ENST00000539006.1:c.2304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2964G>A
  hgvsp: ENST00000320574.5:c.2964G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2011G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2883G>A
  hgvsp: ENST00000535270.1:c.2883G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 843
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1676
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser988Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

12-133237652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237652
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237652
    reference: chr 12
allele count: 9
allele frequency: 7.415708117728487e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2303C>T
  hgvsp: ENSP00000442519.1:p.Ser768Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2010C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2963C>T
  hgvsp: ENSP00000322570.5:p.Ser988Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2882C>T
  hgvsp: ENSP00000445753.1:p.Ser961Leu
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9129
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 843
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genotype quality: GenotypeQuality
  all individuals: 45954
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser988Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-133237657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237657
    reference: chr 12
allele count: 5
allele frequency: 4.119837843182493e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2877A>G
  hgvsp: ENST00000535270.1:c.2877A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*2005A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2958A>G
  hgvsp: ENST00000320574.5:c.2958A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2298A>G
  hgvsp: ENST00000539006.1:c.2298A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3902
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9125
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln986Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-133237680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237680
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237680
    reference: chr 12
allele count: 36
allele frequency: 2.967163391797442e-4
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2854C>T
  hgvsp: ENST00000535270.1:c.2854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2935C>T
  hgvsp: ENST00000320574.5:c.2935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2275C>T
  hgvsp: ENST00000539006.1:c.2275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1982C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45949
  bin: 9.75e1
  variant carriers: 36
hgvs: p.Leu979Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-133237686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237686
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237686
    reference: chr 12
allele count: 4
allele frequency: 3.297391763115376e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2929G>A
  hgvsp: ENSP00000322570.5:p.Gly977Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2848G>A
  hgvsp: ENSP00000445753.1:p.Gly950Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1976G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2269G>A
  hgvsp: ENSP00000442519.1:p.Gly757Arg
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8098
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly977Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-133237687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237687
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237687
    reference: chr 12
allele count: 379
allele frequency: 3.124227186546863e-3
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2847C>T
  hgvsp: ENST00000535270.1:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2268C>T
  hgvsp: ENST00000539006.1:c.2268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2928C>T
  hgvsp: ENST00000320574.5:c.2928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1975C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 9.75e1
  variant carriers: 301
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46033
  bin: 9.75e1
  variant carriers: 375
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg976Arg
num of homozygotes: 4
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-133237691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237691
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237691
    reference: chr 12
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2924G>A
  hgvsp: ENSP00000322570.5:p.Arg975His
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2843G>A
  hgvsp: ENSP00000445753.1:p.Arg948His
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1971G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2264G>A
  hgvsp: ENSP00000442519.1:p.Arg755His
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg975His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

12-133237692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237692
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237692
    reference: chr 12
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2842C>T
  hgvsp: ENSP00000445753.1:p.Arg948Cys
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1970C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2923C>T
  hgvsp: ENSP00000322570.5:p.Arg975Cys
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2263C>T
  hgvsp: ENSP00000442519.1:p.Arg755Cys
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg975Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-133237694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237694
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237694
    reference: chr 12
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2261A>G
  hgvsp: ENSP00000442519.1:p.Lys754Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2840A>G
  hgvsp: ENSP00000445753.1:p.Lys947Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1968A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2921A>G
  hgvsp: ENSP00000322570.5:p.Lys974Arg
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys974Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

12-133237698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237698
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237698
    reference: chr 12
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2257G>A
  hgvsp: ENSP00000442519.1:p.Val753Ile
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2836G>A
  hgvsp: ENSP00000445753.1:p.Val946Ile
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1964G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2917G>A
  hgvsp: ENSP00000322570.5:p.Val973Ile
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val973Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-133237711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237711
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237711
    reference: chr 12
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1951C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2904C>T
  hgvsp: ENST00000320574.5:c.2904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2823C>T
  hgvsp: ENST00000535270.1:c.2823C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2244C>T
  hgvsp: ENST00000539006.1:c.2244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45916
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu968Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-133237721-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237721
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237721
    reference: chr 12
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1941T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2813T>C
  hgvsp: ENSP00000445753.1:p.Leu938Pro
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2894T>C
  hgvsp: ENSP00000322570.5:p.Leu965Pro
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2234T>C
  hgvsp: ENSP00000442519.1:p.Leu745Pro
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu965Pro
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

12-133237727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237727
    reference: chr 12
allele count: 3
allele frequency: 2.479133955871415e-5
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2807G>A
  hgvsp: ENSP00000445753.1:p.Gly936Asp
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2228G>A
  hgvsp: ENSP00000442519.1:p.Gly743Asp
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1935G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2888G>A
  hgvsp: ENSP00000322570.5:p.Gly963Asp
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly963Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-133237728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237728
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237728
    reference: chr 12
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2227G>A
  hgvsp: ENSP00000442519.1:p.Gly743Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1934G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2806G>A
  hgvsp: ENSP00000445753.1:p.Gly936Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2887G>A
  hgvsp: ENSP00000322570.5:p.Gly963Ser
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45911
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly963Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

12-133237729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237729
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237729
    reference: chr 12
allele count: 5
allele frequency: 4.133324515574367e-5
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2805C>T
  hgvsp: ENST00000535270.1:c.2805C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2886C>T
  hgvsp: ENST00000320574.5:c.2886C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1933C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2226C>T
  hgvsp: ENST00000539006.1:c.2226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp962Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-133237730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237730
    reference: chr 12
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1932A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2885A>G
  hgvsp: ENSP00000322570.5:p.Asp962Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2804A>G
  hgvsp: ENSP00000445753.1:p.Asp935Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2225A>G
  hgvsp: ENSP00000442519.1:p.Asp742Gly
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45912
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp962Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

12-133237736-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237736
    reference: chr 12
allele count: 7
allele frequency: 5.793838666423877e-5
allele num: 120818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1926A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2879A>G
  hgvsp: ENSP00000322570.5:p.Asn960Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2798A>G
  hgvsp: ENSP00000445753.1:p.Asn933Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2219A>G
  hgvsp: ENSP00000442519.1:p.Asn740Ser
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn960Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-133237738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237738
    reference: chr 12
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2796C>T
  hgvsp: ENST00000535270.1:c.2796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2877C>T
  hgvsp: ENST00000320574.5:c.2877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1924C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2217C>T
  hgvsp: ENST00000539006.1:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45912
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 179
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe959Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-133237739-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237739
    reference: chr 12
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2795T>C
  hgvsp: ENSP00000445753.1:p.Phe932Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2876T>C
  hgvsp: ENSP00000322570.5:p.Phe959Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2216T>C
  hgvsp: ENSP00000442519.1:p.Phe739Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1923T>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45912
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe959Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-133237747-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237747
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237747
    reference: chr 12
allele count: 1
allele frequency: 8.584722627611901e-6
allele num: 116486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1915T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2868T>C
  hgvsp: ENST00000320574.5:c.2868T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2208T>C
  hgvsp: ENST00000539006.1:c.2208T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2787T>C
  hgvsp: ENST00000535270.1:c.2787T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr956Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-133237752-T-TGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237752
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237755
    reference: chr 12
allele count: 1
allele frequency: 8.769160615945842e-6
allele num: 114036
alternate allele: TGAA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-5_2205-3dupTTC
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-5_*1912-3dupTTC
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-5_2865-3dupTTC
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-5_2784-3dupTTC
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2865-5_2865-3dupTTC
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-133237753-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237754
    reference: chr 12
allele count: 3261
allele frequency: 3.165281876067712e-2
allele num: 103024
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-4dupT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-4dupT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-4dupT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-4dupT
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 8.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 9.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 7.75e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 5.25e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 4.75e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 1.75e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.75e1
  variant carriers: 424
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 6.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.25e1
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 8.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 6.25e1
  variant carriers: 424
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 2.5e0
  variant carriers: 280
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 228
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 247
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 234
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.25e1
  variant carriers: 157
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 247
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 178
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 262
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 230
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 239
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 34115
  bin: 9.75e1
  variant carriers: 734
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 207
hgvs: c.2865-4dupT
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

12-133237753-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237752
    reference: chr 12
allele count: 46677
allele frequency: 4.530691877620748e-1
allele num: 103024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-4delT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-4delT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-4delT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-4delT
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 8.25e1
  variant carriers: 3681
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 9.75e1
  variant carriers: 7516
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 4.75e1
  variant carriers: 1519
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 8.75e1
  variant carriers: 3125
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 737
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.75e1
  variant carriers: 3441
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.25e1
  variant carriers: 4731
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 747
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 6.25e1
  variant carriers: 4417
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.25e1
  variant carriers: 1244
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 7.75e1
  variant carriers: 4237
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 983
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 599
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 611
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 5.25e1
  variant carriers: 2501
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 6.75e1
  variant carriers: 4958
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 1.75e1
  variant carriers: 1266
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.25e1
  variant carriers: 2537
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 969
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 527
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 691
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 551
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 816
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 716
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 9.25e1
  variant carriers: 1037
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.25e1
  variant carriers: 1002
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 974
genotype quality: GenotypeQuality
  all individuals: 34115
  bin: 9.75e1
  variant carriers: 33224
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 649
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 934
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 951
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 833
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 2.5e0
  variant carriers: 481
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 1003
hgvs: c.2865-4delT
num of homozygotes: 12
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: GA
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-133237753-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237751
    reference: chr 12
allele count: 1003
allele frequency: 9.735595589377232e-3
allele num: 103024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-5_2205-4delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-5_2784-4delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-5_2865-4delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-5_*1912-4delTT
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 1.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 6.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 7.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 5.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 8.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 4.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 6.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 34115
  bin: 9.75e1
  variant carriers: 293
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 2.5e0
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 9.25e1
  variant carriers: 31
hgvs: c.2865-5_2865-4delTT
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: GAA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-133237753-G-GAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237755
    reference: chr 12
allele count: 53
allele frequency: 5.144432365274111e-4
allele num: 103024
alternate allele: GAA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-5_2205-4dupTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-5_2784-4dupTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-5_*1912-4dupTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-5_2865-4dupTT
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 3
hgvs: c.2865-5_2865-4dupTT
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-133237753-GAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237750
    reference: chr 12
allele count: 21
allele frequency: 2.038359993787855e-4
allele num: 103024
alternate allele: G
canonical: false
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34115
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 2.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.311991603253739e-4
  allele num: 7622
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 6
  allele frequency: 5.410279531109107e-4
  allele num: 11090
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 740
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.65508109897385e-4
  allele num: 6042
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
reference allele: GAAA
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

12-133237758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237758
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237758
    reference: chr 12
allele count: 3
allele frequency: 2.548160228315156e-5
allele num: 117732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-8T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-8T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-8T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-8T>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34021
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2865-8T>C
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-133237760-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237760
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237760
    reference: chr 12
allele count: 1
allele frequency: 8.491847826086957e-6
allele num: 117760
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-10T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-10T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-10T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-10T>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34023
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

12-133237766-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237766
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237766
    reference: chr 12
allele count: 1
allele frequency: 8.599487470546756e-6
allele num: 116286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-16T>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-16T>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-16T>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-16T>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

12-133237779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237779
    reference: chr 12
allele count: 1
allele frequency: 8.893948557401545e-6
allele num: 112436
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-29G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-29G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-29G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-29G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-133237789-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237789
    reference: chr 12
allele count: 9
allele frequency: 8.187177061349247e-5
allele num: 109928
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-39C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-39C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-39C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-39C>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 9.25e1
  variant carriers: 0
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: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

12-133237793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237793
    reference: chr 12
allele count: 3
allele frequency: 2.732688418866481e-5
allele num: 109782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-43C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-43C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-43C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-43C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33775
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
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: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-133237793-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237793
    reference: chr 12
allele count: 3
allele frequency: 2.732688418866481e-5
allele num: 109782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-43C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-43C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-43C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-43C>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33775
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

12-133237795-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237795
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237795
    reference: chr 12
allele count: 1
allele frequency: 9.122922254456548e-6
allele num: 109614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-45A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-45A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-45A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-45A>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1893
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-133237797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237797
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237797
    reference: chr 12
allele count: 2
allele frequency: 1.824750921499215e-5
allele num: 109604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-47C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-47C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-47C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-47C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1306
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genotype quality: GenotypeQuality
  all individuals: 33771
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-133237802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133237802
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133237802
    reference: chr 12
allele count: 1
allele frequency: 9.167415338919345e-6
allele num: 109082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2784-52G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2865-52G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2205-52G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1912-52G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-133238063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133238063
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133238063
    reference: chr 12
allele count: 2
allele frequency: 1.673612157118709e-5
allele num: 119502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1911+50G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2204+50G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2783+50G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2864+50G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40169
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52325
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-133238065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133238065
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133238065
    reference: chr 12
allele count: 1
allele frequency: 8.359246999030327e-6
allele num: 119628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.2783+48T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442519
  ensembl transcript: ENST00000539006
  gene symbol: POLE
  hgvsc: ENST00000539006.1:c.2204+48T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*1911+48T>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.2864+48T>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 562
bin: 2.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
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: 10332
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.611302e6

FS
type: SiteQuality
SIO_000300: 1.512e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

QD
type: SiteQuality
SIO_000300: 2.441e1

GenotypeQuality
all individuals: 635
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48386
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.609603e6

VQSLOD
type: SiteQuality
SIO_000300: -6.258e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.139e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.04e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47522
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1249
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66148
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
type: SiteQuality
SIO_000300: 1.590759e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.951e0

VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

FS
type: SiteQuality
SIO_000300: 1.255e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

GenotypeQuality
all individuals: 1303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47318
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.147792942333702e-5
allele num: 16266
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.381e0

VQSLOD
type: SiteQuality
SIO_000300: -1.445e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 8.920999999999999e0

DP
type: SiteQuality
SIO_000300: 1.587065e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

QD
type: SiteQuality
SIO_000300: 1.991e1

MQRankSum
type: SiteQuality
SIO_000300: -1.029e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 6713
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.791981712678038e-5
allele num: 11374
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66008
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

DP
type: SiteQuality
SIO_000300: 1.58194e6

VQSLOD
type: SiteQuality
SIO_000300: -7.788e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

FS
type: SiteQuality
SIO_000300: 2.564e0

QD
type: SiteQuality
SIO_000300: 1.842e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 46089
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8464
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.080321040950962e-5
allele num: 65786
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.857585139318885e-4
allele num: 16150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.624e0

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 4.917e0

DP
type: SiteQuality
SIO_000300: 1.567902e6

QD
type: SiteQuality
SIO_000300: 1.009e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65090
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9948
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.405002405002405e-4
allele num: 8316
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.519846e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 5.986e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.558700667123886e-5
allele num: 64156
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

Latino
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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: 870
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.451581e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.37e-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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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.230201218386561e-5
allele num: 10834
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63828
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 2.329e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e0

DP
type: SiteQuality
SIO_000300: 1.424944e6

QD
type: SiteQuality
SIO_000300: 1.886e1

VQSLOD
type: SiteQuality
SIO_000300: -5.315e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63798
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.275022312890476e-4
allele num: 15686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.647e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
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SIO_000300: 1.423988e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.24e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.375111564452378e-5
allele num: 15686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.24e-1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.15e-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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.039933444259567e-4
allele num: 9616
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63374
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 1.617494824016563e-5
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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African
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South Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61046
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Latino
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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Other
type: Population
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East Asian
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allele frequency: 1.376273052573631e-4
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African
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European (Non-Finnish)
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South Asian
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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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
all individuals: 167
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GenotypeQuality
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Latino
type: Population
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allele frequency: 0.0e0
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South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
type: Population
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Other
type: Population
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allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57532
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.77421e5

QD
type: SiteQuality
SIO_000300: 1.316e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.935e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

FS
type: SiteQuality
SIO_000300: 3.332e0

VQSLOD
type: SiteQuality
SIO_000300: -9.855e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeQuality
all individuals: 1256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 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: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.51123595505618e-4
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63984
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.922516e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

FS
type: SiteQuality
SIO_000300: 6.399e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.422e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
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: 796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.958175662218681e-5
allele num: 10042
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.925848e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 5.135e0

GenotypeQuality
all individuals: 545
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64048
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.897070467141726e-5
allele num: 10104
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.872e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.386e0

DP
type: SiteQuality
SIO_000300: 3.928249e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
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: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.119151590767312e-5
allele num: 64120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

VQSLOD
type: SiteQuality
SIO_000300: -4.217e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.933805e6

MQ
type: SiteQuality
SIO_000300: 5.898e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 832
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.94943e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.755e0

MQRankSum
type: SiteQuality
SIO_000300: -1.602e0

QD
type: SiteQuality
SIO_000300: 1.161e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.294e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
all individuals: 792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542543345468008e-5
allele num: 64828
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11852
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.226e1

FS
type: SiteQuality
SIO_000300: 1.643e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

DP
type: SiteQuality
SIO_000300: 3.961205e6

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65116
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
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: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 3.971711e6

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

GenotypeQuality
all individuals: 2780
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variant carriers: 0

GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 85
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.149151085321298e-4
allele num: 65142
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.973777e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.915e0

FS
type: SiteQuality
SIO_000300: 1.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 17
allele frequency: 2.602890739833415e-4
allele num: 65312
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13218
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.435e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

DP
type: SiteQuality
SIO_000300: 3.981782e6

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.27e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
all individuals: 799
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variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65374
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13276
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.554e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.092e0

VQSLOD
type: SiteQuality
SIO_000300: -1.988e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 3.983135e6

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

FS
type: SiteQuality
SIO_000300: 1.1719e1

QD
type: SiteQuality
SIO_000300: 1.048e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1052
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variant carriers: 0

GenotypeQuality
all individuals: 1436
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GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.599653379549393e-4
allele num: 11540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13602
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 108
allele frequency: 1.649308206835466e-3
allele num: 65482
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

FS
type: SiteQuality
SIO_000300: 2.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.996574e6

GenotypeQuality
all individuals: 811
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 45953
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variant carriers: 1

GenotypeQuality
all individuals: 1053
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
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Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 3.997192e6

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

QD
type: SiteQuality
SIO_000300: 1.498e1

GenotypeQuality
all individuals: 1461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
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GenotypeQuality
all individuals: 609
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523739867129884e-5
allele num: 65628
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13914
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.997192e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

QD
type: SiteQuality
SIO_000300: 1.498e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515886490419597e-5
allele num: 65968
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14822
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.837e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.168e0

QD
type: SiteQuality
SIO_000300: 1.499e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.824e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 4.010112e6

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 830
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 10396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.588e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 1.481e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.364e0

DP
type: SiteQuality
SIO_000300: 4.031177e6

GenotypeQuality
all individuals: 8673
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45953
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variant carriers: 1

GenotypeQuality
all individuals: 507
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
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: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.375e1

FS
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 4.033794e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.518e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.03e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9028
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.376e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

FS
type: SiteQuality
SIO_000300: 4.286e0

DP
type: SiteQuality
SIO_000300: 4.040143e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.748e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.161e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 4.0404e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.381e0

FS
type: SiteQuality
SIO_000300: 1.016e0

QD
type: SiteQuality
SIO_000300: 1.564e1

VQSLOD
type: SiteQuality
SIO_000300: -9.096e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

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

GenotypeQuality
all individuals: 1674
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 17
allele frequency: 1.468301951977889e-3
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.232e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

DP
type: SiteQuality
SIO_000300: 4.043388e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

GenotypeQuality
all individuals: 840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45962
bin: 9.75e1
variant carriers: 42

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998440405494571e-5
allele num: 66684
num of homozygotes: 0

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

East Asian
type: Population
allele count: 37
allele frequency: 4.275479547030275e-3
allele num: 8654
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.457e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

DP
type: SiteQuality
SIO_000300: 4.047284e6

QD
type: SiteQuality
SIO_000300: 1.241e1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.043613e6

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.503e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 1.766e0

DP
type: SiteQuality
SIO_000300: 4.043705e6

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496926260233305e-5
allele num: 66694
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

DP
type: SiteQuality
SIO_000300: 4.044913e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 4.044403e6

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 1.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 35
allele frequency: 4.046242774566474e-3
allele num: 8650
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.124e0

DP
type: SiteQuality
SIO_000300: 4.05126e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.212e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

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

GenotypeQuality
all individuals: 45948
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 843
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9030
bin: 6.25e1
variant carriers: 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: 16498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500180007200288e-5
allele num: 66664
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.199e0

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 5.887e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.045554e6

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 24
allele frequency: 2.072896873380549e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 349
allele frequency: 3.355769230769231e-2
allele num: 10400
num of homozygotes: 4

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000240009600384e-5
allele num: 66664
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.105059e6

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.264e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

GenotypeQuality
all individuals: 1676
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.354e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 5.641e0

MQ
type: SiteQuality
SIO_000300: 5.785e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.236e0

QD
type: SiteQuality
SIO_000300: 1.292e1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.054586e6

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45915
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8981
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.304e1

VQSLOD
type: SiteQuality
SIO_000300: 9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.293e0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.425e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.952e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

DP
type: SiteQuality
SIO_000300: 4.05496e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

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

GenotypeQuality
all individuals: 45915
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
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: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 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: 8650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

FS
type: SiteQuality
SIO_000300: 6.423e0

DP
type: SiteQuality
SIO_000300: 4.054592e6

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e0

GenotypeQuality
all individuals: 45914
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1050
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.499e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

DP
type: SiteQuality
SIO_000300: 4.053705e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.91e-1

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

GenotypeQuality
all individuals: 823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.0482e6

FS
type: SiteQuality
SIO_000300: 4.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 2.104e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.285e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.377e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.75e-2

GenotypeQuality
all individuals: 45913
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.168e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 4.038832e6

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

FS
type: SiteQuality
SIO_000300: 3.558e0

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45912
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1049
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 4.03151e6

FS
type: SiteQuality
SIO_000300: 2.95e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.566e0

QD
type: SiteQuality
SIO_000300: 1.179e1

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.808e0

GenotypeQuality
all individuals: 1049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 4.029373e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.299e0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

GenotypeQuality
all individuals: 822
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45911
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1049
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5092439500977e-5
allele num: 66530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92789666473877e-4
allele num: 10374
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 4.027662e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.514e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.154e0

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.414e0

GenotypeQuality
all individuals: 823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 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: 10376
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.334e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

QD
type: SiteQuality
SIO_000300: 4.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 4.025743e6

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

GenotypeQuality
all individuals: 562
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45912
bin: 9.75e1
variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00833308263891e-5
allele num: 66482
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.928640308582449e-4
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.156877231867996e-5
allele num: 16242
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.492e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

DP
type: SiteQuality
SIO_000300: 4.015808e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 1049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.189650903689032e-5
allele num: 16156
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.013e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.603e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.277e0

VQSLOD
type: SiteQuality
SIO_000300: -1.063e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 4.011555e6

FS
type: SiteQuality
SIO_000300: 1.8214e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.242976651267325e-5
allele num: 16018
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: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 4.008051e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 7.54e-1

QD
type: SiteQuality
SIO_000300: 1.545e1

MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.668e0

GenotypeQuality
all individuals: 495
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533224985434363e-5
allele num: 65222
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.369e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.554e0

FS
type: SiteQuality
SIO_000300: 1.8523e1

DP
type: SiteQuality
SIO_000300: 3.998383e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -2.777e0

GenotypeQuality
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45871
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554919766140067e-5
allele num: 64312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.583e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 4.009753e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

GenotypeQuality
all individuals: 1160
bin: 9.25e1
variant carriers: 91

GenotypeQuality
all individuals: 1157
bin: 2.75e1
variant carriers: 254

GenotypeQuality
all individuals: 1171
bin: 7.75e1
variant carriers: 116

GenotypeQuality
all individuals: 1221
bin: 5.75e1
variant carriers: 184

African
type: Population
allele count: 393
allele frequency: 4.752116082224909e-2
allele num: 8270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1497
allele frequency: 2.55591599795117e-2
allele num: 58570
num of homozygotes: 0

Latino
type: Population
allele count: 322
allele frequency: 3.012160898035547e-2
allele num: 10690
num of homozygotes: 0

East Asian
type: Population
allele count: 297
allele frequency: 3.896615061663605e-2
allele num: 7622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 79
allele frequency: 1.307514068189341e-2
allele num: 6042
num of homozygotes: 0

South Asian
type: Population
allele count: 653
allele frequency: 5.888187556357079e-2
allele num: 11090
num of homozygotes: 0

Other
type: Population
allele count: 20
allele frequency: 2.702702702702703e-2
allele num: 740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 3.903057e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.063e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

GenotypeQuality
all individuals: 1081
bin: 8.75e1
variant carriers: 945

GenotypeQuality
all individuals: 1108
bin: 8.25e1
variant carriers: 952

GenotypeQuality
all individuals: 1233
bin: 4.25e1
variant carriers: 898

GenotypeQuality
all individuals: 1264
bin: 5.25e1
variant carriers: 987

Other
type: Population
allele count: 340
allele frequency: 4.594594594594595e-1
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 3403
allele frequency: 4.464707425872474e-1
allele num: 7622
num of homozygotes: 0

African
type: Population
allele count: 3579
allele frequency: 4.327690447400242e-1
allele num: 8270
num of homozygotes: 1

Latino
type: Population
allele count: 4966
allele frequency: 4.645463049579046e-1
allele num: 10690
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 2801
allele frequency: 4.635882158225753e-1
allele num: 6042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26900
allele frequency: 4.592794946218201e-1
allele num: 58570
num of homozygotes: 5

South Asian
type: Population
allele count: 4688
allele frequency: 4.227231740306582e-1
allele num: 11090
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 3.903057e6

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.063e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

QD
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
all individuals: 1233
bin: 4.25e1
variant carriers: 45

GenotypeQuality
all individuals: 1234
bin: 2.25e1
variant carriers: 77

GenotypeQuality
all individuals: 1221
bin: 5.75e1
variant carriers: 36

GenotypeQuality
all individuals: 1240
bin: 6.25e1
variant carriers: 58

Latino
type: Population
allele count: 190
allele frequency: 1.777362020579981e-2
allele num: 10690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 500
allele frequency: 8.536793580331228e-3
allele num: 58570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.813637868255545e-3
allele num: 6042
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 9.45945945945946e-3
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 59
allele frequency: 7.740750459197061e-3
allele num: 7622
num of homozygotes: 0

South Asian
type: Population
allele count: 157
allele frequency: 1.415689810640216e-2
allele num: 11090
num of homozygotes: 0

African
type: Population
allele count: 73
allele frequency: 8.827085852478839e-3
allele num: 8270
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.48e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 3.903057e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.063e-1

GenotypeQuality
all individuals: 34115
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1233
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1108
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1171
bin: 7.75e1
variant carriers: 2

East Asian
type: Population
allele count: 1
allele frequency: 1.311991603253739e-4
allele num: 7622
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.330108827085852e-3
allele num: 8270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.65508109897385e-4
allele num: 6042
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.806361085126286e-4
allele num: 10690
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 1.172227231740306e-3
allele num: 11090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 4.097660918558989e-4
allele num: 58570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.063e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 3.903057e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

Latino
type: Population
allele count: 1
allele frequency: 9.354536950420954e-5
allele num: 10690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.048830459279495e-4
allele num: 58570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.063e-1

QD
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

DP
type: SiteQuality
SIO_000300: 3.903057e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.505491937368544e-4
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 2.757325e6

BaseQRankSum
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FS
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QD
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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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variant carriers: 0

East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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ReadPosRankSum
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DP
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FS
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 1.539645881447267e-5
allele num: 64950
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African
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6590
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Other
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num of homozygotes: 0

African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.56941523588311e-5
allele num: 63718
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele frequency: 1.115324559446799e-4
allele num: 62762
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Latino
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allele frequency: 1.754693805930865e-4
allele num: 11398
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 794
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.687e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6584
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African
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East Asian
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Other
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

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

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 3.201024327784891e-4
allele num: 9372
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South Asian
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allele frequency: 0.0e0
allele num: 10658
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62634
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Latino
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Other
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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QD
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ClippingRankSum
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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 frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 62648
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East Asian
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South Asian
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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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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Latino
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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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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South Asian
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European (Non-Finnish)
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Other
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Latino
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East Asian
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African
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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MQ
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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