20-18448157-G-GAGGTGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448157
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448163
    reference: chr 20
allele count: 2
allele frequency: 1.656232402530723e-5
allele num: 120756
alternate allele: GAGGTGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.78_83dupAAGGTG
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.19_24dupAAGGTG
  hgvsp: ENSP00000366828.4:p.Lys7_Val8dup
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.131_136dupAAGGTG
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.137_142dupAAGGTG
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.137_142dupAAGGTG
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.95_100dupAAGGTG
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys7_Val8dup
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-18448158-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448158
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448158
    reference: chr 20
allele count: 5
allele frequency: 4.140992513085536e-5
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.84A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.8A>C
  hgvsp: ENSP00000366828.4:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.126A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.67A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.120A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.126A>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu3Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

20-18448172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448172
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448172
    reference: chr 20
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.98G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.140G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.22G>A
  hgvsp: ENSP00000366828.4:p.Val8Met
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.81G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.140G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.134G>A
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9511
  bin: 6.75e1
  variant carriers: 0
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
  all individuals: 1272
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val8Met
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

20-18448178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448178
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448178
    reference: chr 20
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.87C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.140C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.28C>T
  hgvsp: ENSP00000366828.4:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.104C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.146C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.146C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro10Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

20-18448181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448181
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448181
    reference: chr 20
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.149C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.149C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.90C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.31C>T
  hgvsp: ENSP00000366828.4:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.143C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.107C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro11Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

20-18448197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448197
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448197
    reference: chr 20
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.159T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.165T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.123T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.47T>C
  hgvsp: ENSP00000366828.4:p.Val16Ala
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.165T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.106T>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val16Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/20-18448198-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448198
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448198
    reference: chr 20
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.166C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.166C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.107C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.124C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.48C>A
  hgvsp: ENST00000377603.4:c.48C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.160C>A
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val16Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

20-18448203-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448203
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448203
    reference: chr 20
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.171T>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.165T>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.129T>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.171T>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.112T>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.53T>A
  hgvsp: ENSP00000366828.4:p.Ile18Lys
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile18Lys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

20-18448206-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448206
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448206
    reference: chr 20
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.174A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.115A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.168A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.56A>G
  hgvsp: ENSP00000366828.4:p.Glu19Gly
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.174A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.132A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4911
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9445
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu19Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

20-18448212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448212
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448212
    reference: chr 20
allele count: 2
allele frequency: 1.656891009709381e-5
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.180G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.62G>A
  hgvsp: ENSP00000366828.4:p.Arg21Lys
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.138G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.180G>A
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9392
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg21Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

20-18448226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448226
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448226
    reference: chr 20
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.138+14G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+14G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+14G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.180+14G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.194G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.62+14G>A
  variant of: http://identifiers.org/hgnc/15763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

20-18448229-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448229
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448229
    reference: chr 20
allele count: 2
allele frequency: 1.66602802259134e-5
allele num: 120046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.180+17C>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.62+17C>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.138+17C>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+17C>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.197C>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+17C>G
  variant of: http://identifiers.org/hgnc/15763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

20-18448229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448229
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448229
    reference: chr 20
allele count: 1
allele frequency: 8.3301401129567e-6
allele num: 120046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+17C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.197C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.138+17C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.62+17C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+17C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.180+17C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

20-18448230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448230
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448230
    reference: chr 20
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.62+18C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.138+18C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.198C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.180+18C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+18C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+18C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23210
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 959
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

20-18448253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18448253
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18448253
    reference: chr 20
allele count: 1
allele frequency: 8.404773911581778e-6
allele num: 118980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.180+41C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.62+41C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.138+41C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+41C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+41C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.221C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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
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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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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

20-18449540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449540
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449540
    reference: chr 20
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1328C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1328C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.63-48C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.139-48C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.284-48C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.181-48C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  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: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.25e1
  variant carriers: 1
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
  all individuals: 9765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-18449546-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449546
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449546
    reference: chr 20
allele count: 2
allele frequency: 1.653794631782625e-5
allele num: 120934
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.63-42A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1334A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.284-42A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.181-42A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1334A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.139-42A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25870
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

20-18449556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449556
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449556
    reference: chr 20
allele count: 6
allele frequency: 4.95900555408622e-5
allele num: 120992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.181-32A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1344A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.139-32A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1344A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.63-32A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.284-32A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25888
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-18449566-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449566
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449566
    reference: chr 20
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.139-22A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.284-22A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1354A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.63-22A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1354A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.181-22A>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25902
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

20-18449570-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449570
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449569
    reference: chr 20
allele count: 2
allele frequency: 1.651064110819423e-5
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.63-16delA
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.139-16delA
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.284-16delA
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1360delA
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1360delA
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.181-16delA
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: TA
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-18449574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449574
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449574
    reference: chr 20
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.284-14A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1362A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1362A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.139-14A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.63-14A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.181-14A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

20-18449576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449576
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449576
    reference: chr 20
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.284-12C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1364C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.63-12C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.181-12C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1364C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.139-12C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

20-18449582-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449582
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449582
    reference: chr 20
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.139-6T>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1370T>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.63-6T>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.181-6T>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1370T>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.284-6T>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: c.63-6T>G
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-18449586-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449586
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449586
    reference: chr 20
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.63-2A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.181-2A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.139-2A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.284-2A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1374A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1374A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
hgvs: c.63-2A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

20-18449591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449591
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449591
    reference: chr 20
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.184T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.287T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1379T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.66T>C
  hgvsp: ENST00000377603.4:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1379T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.142T>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile22Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

20-18449604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449604
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449604
    reference: chr 20
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.79C>T
  hgvsp: ENSP00000366828.4:p.His27Tyr
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.300C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1392C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.197C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.155C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1392C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25917
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His27Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

20-18449608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449608
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449608
    reference: chr 20
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.304A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.159A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1396A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.201A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1396A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.83A>G
  hgvsp: ENSP00000366828.4:p.Gln28Arg
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  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: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln28Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

20-18449610-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449610
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449610
    reference: chr 20
allele count: 4
allele frequency: 3.295924589245398e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1398T>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.306T>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.85T>A
  hgvsp: ENSP00000366828.4:p.Phe29Ile
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.203T>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1398T>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.161T>A
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25922
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
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: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe29Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

20-18449618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449618
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449618
    reference: chr 20
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.211T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.169T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.314T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1406T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.93T>C
  hgvsp: ENST00000377603.4:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1406T>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25925
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His31His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/20-18449627-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449627
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449627
    reference: chr 20
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.102A>C
  hgvsp: ENST00000377603.4:c.102A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1415A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1415A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.178A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.220A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.323A>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25926
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr34Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

20-18449634-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449634
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449634
    reference: chr 20
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.330G>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.185G>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1422G>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.227G>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.109G>T
  hgvsp: ENSP00000366828.4:p.Val37Leu
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1422G>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  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: 4340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val37Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

20-18449642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449642
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449642
    reference: chr 20
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.235G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.117G>A
  hgvsp: ENST00000377603.4:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.338G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.193G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1430G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1430G>A
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  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: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln39Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

20-18449655-C-CAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449655
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449657
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: CAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.355_356dupTA
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.210_211dupTA
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1447_174+1448dupTA
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.134_135dupTA
  hgvsp: ENSP00000366828.4:p.Glu46Ter
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1447_121+1448dupTA
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.252_253dupTA
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  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: 4280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu46Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

20-18449658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449658
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449658
    reference: chr 20
allele count: 5
allele frequency: 4.11868399808893e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.133A>G
  hgvsp: ENSP00000366828.4:p.Ile45Val
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.251A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1446A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.209A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.354A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1446A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25924
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile45Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-18449659-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449659
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449659
    reference: chr 20
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.210T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.252T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1447T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.355T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.134T>C
  hgvsp: ENSP00000366828.4:p.Ile45Thr
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1447T>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25923
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile45Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

20-18449673-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449673
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449673
    reference: chr 20
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.224C>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.369C>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1461C>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.266C>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.148C>G
  hgvsp: ENSP00000366828.4:p.Arg50Gly
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1461C>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg50Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

20-18449674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449674
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449674
    reference: chr 20
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.370G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1462G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.149G>A
  hgvsp: ENSP00000366828.4:p.Arg50Gln
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1462G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.267G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.225G>A
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 7.75e1
  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: 3907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg50Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/20-18449684-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449684
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449684
    reference: chr 20
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.235C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.380C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.159C>A
  hgvsp: ENST00000377603.4:c.159C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1472C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.277C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1472C>A
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  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: 11617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala53Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

20-18449709-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449709
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449709
    reference: chr 20
allele count: 2
allele frequency: 1.648587160803192e-5
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.302A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1497A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.401+4A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.256+4A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1497A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.180+4A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: c.180+4A>G
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-18449710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449710
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449710
    reference: chr 20
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.180+5G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1498G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.256+5G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.303G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.401+5G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1498G>A
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.180+5G>A
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

20-18449723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449723
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449723
    reference: chr 20
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1511A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.180+18A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.256+18A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1511A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.401+18A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.316A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-18449729-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18449729
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18449729
    reference: chr 20
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.256+24C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.174+1517C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.180+24C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000461589
  gene symbol: POLR3F
  hgvsc: ENST00000461589.1:n.322C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.401+24C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.121+1517C>A
  variant of: http://identifiers.org/hgnc/15763
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

20-18451273-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18451273
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18451273
    reference: chr 20
allele count: 1
allele frequency: 6.402048655569782e-4
allele num: 1562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-2213G>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.180+1568G>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.401+1568G>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-2213G>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000265137
  ensembl transcript: ENST00000584920
  gene symbol: MIR3192
  hgvsc: ENST00000584920.1:n.15G>T
  variant of: http://identifiers.org/hgnc/38202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.256+1568G>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: mature miRNA
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-18451300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18451300
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18451300
    reference: chr 20
allele count: 4
allele frequency: 2.554278416347382e-3
allele num: 1566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.256+1595T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-2186T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.401+1595T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.180+1595T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000265137
  ensembl transcript: ENST00000584920
  gene symbol: MIR3192
  hgvsc: ENST00000584920.1:n.42T>C
  variant of: http://identifiers.org/hgnc/38202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-2186T>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

20-18451307-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18451307
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18451307
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 1564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.401+1602T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.180+1602T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-2179T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000265137
  ensembl transcript: ENST00000584920
  gene symbol: MIR3192
  hgvsc: ENST00000584920.1:n.49T>C
  variant of: http://identifiers.org/hgnc/38202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-2179T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.256+1602T>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

20-18451308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18451308
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18451308
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 1562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-2178C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-2178C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.256+1603C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.180+1603C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.401+1603C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000265137
  ensembl transcript: ENST00000584920
  gene symbol: MIR3192
  hgvsc: ENST00000584920.1:n.50C>T
  variant of: http://identifiers.org/hgnc/38202
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

20-18451325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18451325
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18451325
    reference: chr 20
allele count: 49
allele frequency: 3.137003841229193e-2
allele num: 1562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.256+1620T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-2161T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000265137
  ensembl transcript: ENST00000584920
  gene symbol: MIR3192
  hgvsc: ENST00000584920.1:n.67T>C
  variant of: http://identifiers.org/hgnc/38202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.180+1620T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.401+1620T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-2161T>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-18453440-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453440
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453440
    reference: chr 20
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.402-46A>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.181-46A>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-46A>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.257-46A>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-46A>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

20-18453453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453453
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453453
    reference: chr 20
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-33C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.257-33C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.402-33C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.181-33C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-33C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

20-18453460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453460
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453460
    reference: chr 20
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.402-26C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.257-26C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-26C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-26C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.181-26C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

20-18453462-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453462
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453462
    reference: chr 20
allele count: 2
allele frequency: 1.658842459731599e-5
allele num: 120566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.402-24G>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.257-24G>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.181-24G>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-24G>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-24G>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-78013729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013729
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013729
    reference: chr 17
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.212C>T
  hgvsp: ENSP00000380679.4:p.Thr71Ile
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.211C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.122C>T
  hgvsp: ENSP00000460002.1:p.Thr41Ile
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.212C>T
  hgvsp: ENSP00000364011.3:p.Thr71Ile
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.212C>T
  hgvsp: ENSP00000364010.4:p.Thr71Ile
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.212C>T
  hgvsp: ENSP00000269318.5:p.Thr71Ile
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.225C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.122C>T
  hgvsp: ENSP00000459489.1:p.Thr41Ile
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.198C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr71Ile
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/20-18453469-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453469
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453469
    reference: chr 20
allele count: 2
allele frequency: 1.657357840131263e-5
allele num: 120674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-17A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.402-17A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-17A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.181-17A>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.257-17A>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

20-18453479-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453479
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453479
    reference: chr 20
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.257-7A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.181-7A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.175-7A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.402-7A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.122-7A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.75e1
  variant carriers: 0
hgvs: c.181-7A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

20-18453488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453488
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453488
    reference: chr 20
allele count: 10
allele frequency: 8.273214640280628e-5
allele num: 120872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.124T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.177T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.183T>C
  hgvsp: ENST00000377603.4:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.259T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.404T>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7373
  bin: 6.75e1
  variant carriers: 0
hgvs: c.183T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/20-18453514-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453514
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453514
    reference: chr 20
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.285C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.209C>A
  hgvsp: ENSP00000366828.4:p.Thr70Lys
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.150C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.430C>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.203C>A
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr70Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

20-18453514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453514
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453514
    reference: chr 20
allele count: 4
allele frequency: 3.307261091726886e-5
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.209C>T
  hgvsp: ENSP00000366828.4:p.Thr70Met
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.150C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.203C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.285C>T
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.430C>T
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42730
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr70Met
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

20-18453515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453515
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453515
    reference: chr 20
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.151G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.204G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.431G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.286G>A
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.210G>A
  hgvsp: ENST00000377603.4:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7376
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr70Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

20-18453524-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453524
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453524
    reference: chr 20
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.160A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.219A>G
  hgvsp: ENST00000377603.4:c.219A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.295A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.213A>G
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.440A>G
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15249
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu73Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

20-18453525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453525
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453525
    reference: chr 20
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.441T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.214T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.296T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.161T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.220T>C
  hgvsp: ENSP00000366828.4:p.Tyr74His
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr74His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

20-18453527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18453527
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 18453527
    reference: chr 20
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132664
  ensembl protein: ENSP00000366828
  ensembl transcript: ENST00000377603
  gene symbol: POLR3F
  hgvsc: ENST00000377603.4:c.222T>C
  hgvsp: ENST00000377603.4:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000489753
  gene symbol: POLR3F
  hgvsc: ENST00000489753.1:n.163T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000497333
  gene symbol: POLR3F
  hgvsc: ENST00000497333.1:n.216T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000475192
  gene symbol: POLR3F
  hgvsc: ENST00000475192.1:n.298T>C
  variant of: http://identifiers.org/hgnc/15763
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132664
  ensembl transcript: ENST00000462997
  gene symbol: POLR3F
  hgvsc: ENST00000462997.1:n.443T>C
  variant of: http://identifiers.org/hgnc/15763
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7372
  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr74Tyr
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: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

17-78013734-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013734
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013734
    reference: chr 17
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.230G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.217G>C
  hgvsp: ENSP00000269318.5:p.Gly73Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.216G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.217G>C
  hgvsp: ENSP00000380679.4:p.Gly73Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.127G>C
  hgvsp: ENSP00000459489.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.127G>C
  hgvsp: ENSP00000460002.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.217G>C
  hgvsp: ENSP00000364010.4:p.Gly73Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.217G>C
  hgvsp: ENSP00000364011.3:p.Gly73Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.203G>C
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly73Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-78013740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013740
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013740
    reference: chr 17
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.209G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.133G>A
  hgvsp: ENSP00000460002.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.222G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.223G>A
  hgvsp: ENSP00000364010.4:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.223G>A
  hgvsp: ENSP00000380679.4:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.236G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.223G>A
  hgvsp: ENSP00000269318.5:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.223G>A
  hgvsp: ENSP00000364011.3:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.133G>A
  hgvsp: ENSP00000459489.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala75Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

17-78013756-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013756
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013756
    reference: chr 17
allele count: 2
allele frequency: 1.656259834042764e-5
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.149A>T
  hgvsp: ENSP00000459489.1:p.Glu50Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.239A>T
  hgvsp: ENSP00000269318.5:p.Glu80Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.239A>T
  hgvsp: ENSP00000364011.3:p.Glu80Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.239A>T
  hgvsp: ENSP00000380679.4:p.Glu80Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.239A>T
  hgvsp: ENSP00000364010.4:p.Glu80Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.238A>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.252A>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.149A>T
  hgvsp: ENSP00000460002.1:p.Glu50Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.225A>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu80Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-78013764-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013764
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013763
    reference: chr 17
allele count: 58
allele frequency: 4.802994418589245e-4
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.234delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.261delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.248delC
  hgvsp: ENSP00000269318.5:p.Ala83ValfsTer84
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.247delC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.248delC
  hgvsp: ENSP00000364010.4:p.Ala83ValfsTer84
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.158delC
  hgvsp: ENSP00000460002.1:p.Ala53ValfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.158delC
  hgvsp: ENSP00000459489.1:p.Ala53ValfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.248delC
  hgvsp: ENSP00000380679.4:p.Ala83ValfsTer84
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.248delC
  hgvsp: ENSP00000364011.3:p.Ala83ValfsTer84
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala83ValfsTer84
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: GC
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

17-78013765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013765
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013765
    reference: chr 17
allele count: 2
allele frequency: 1.657797450307521e-5
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.248C>T
  hgvsp: ENSP00000380679.4:p.Ala83Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.248C>T
  hgvsp: ENSP00000269318.5:p.Ala83Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.158C>T
  hgvsp: ENSP00000459489.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.158C>T
  hgvsp: ENSP00000460002.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.248C>T
  hgvsp: ENSP00000364011.3:p.Ala83Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.234C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.247C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.248C>T
  hgvsp: ENSP00000364010.4:p.Ala83Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.261C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala83Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-78013772-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013772
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013772
    reference: chr 17
allele count: 2
allele frequency: 1.656232402530723e-5
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.254C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.255C>T
  hgvsp: ENST00000374876.4:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.165C>T
  hgvsp: ENST00000576033.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.255C>T
  hgvsp: ENST00000397545.4:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.255C>T
  hgvsp: ENST00000269318.5:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.255C>T
  hgvsp: ENST00000374877.3:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.241C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.268C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.165C>T
  hgvsp: ENST00000574099.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser85Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-78013774-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013774
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013774
    reference: chr 17
allele count: 13
allele frequency: 1.076533231752762e-4
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.243A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.257A>G
  hgvsp: ENSP00000380679.4:p.Tyr86Cys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.256A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.257A>G
  hgvsp: ENSP00000364011.3:p.Tyr86Cys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.167A>G
  hgvsp: ENSP00000460002.1:p.Tyr56Cys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.167A>G
  hgvsp: ENSP00000459489.1:p.Tyr56Cys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.257A>G
  hgvsp: ENSP00000364010.4:p.Tyr86Cys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.257A>G
  hgvsp: ENSP00000269318.5:p.Tyr86Cys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.270A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr86Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

17-78013775-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013775
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013775
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.258T>C
  hgvsp: ENST00000397545.4:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.258T>C
  hgvsp: ENST00000374876.4:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.168T>C
  hgvsp: ENST00000574099.1:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.168T>C
  hgvsp: ENST00000576033.1:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.258T>C
  hgvsp: ENST00000269318.5:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.258T>C
  hgvsp: ENST00000374877.3:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.244T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.271T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.257T>C
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr86Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-78013791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013791
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013791
    reference: chr 17
allele count: 10
allele frequency: 8.280750567231414e-5
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.274G>A
  hgvsp: ENSP00000364011.3:p.Glu92Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.184G>A
  hgvsp: ENSP00000459489.1:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.274G>A
  hgvsp: ENSP00000380679.4:p.Glu92Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.184G>A
  hgvsp: ENSP00000460002.1:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.260G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.274G>A
  hgvsp: ENSP00000364010.4:p.Glu92Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.274G>A
  hgvsp: ENSP00000269318.5:p.Glu92Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.273G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.287G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu92Lys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-78013791-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013791
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013791
    reference: chr 17
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.274G>C
  hgvsp: ENSP00000364010.4:p.Glu92Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.184G>C
  hgvsp: ENSP00000460002.1:p.Glu62Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.274G>C
  hgvsp: ENSP00000380679.4:p.Glu92Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.260G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.273G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.274G>C
  hgvsp: ENSP00000364011.3:p.Glu92Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.184G>C
  hgvsp: ENSP00000459489.1:p.Glu62Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.287G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.274G>C
  hgvsp: ENSP00000269318.5:p.Glu92Gln
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu92Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-78013794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013794
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013794
    reference: chr 17
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.277G>A
  hgvsp: ENSP00000269318.5:p.Glu93Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.290G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.263G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.277G>A
  hgvsp: ENSP00000380679.4:p.Glu93Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.277G>A
  hgvsp: ENSP00000364010.4:p.Glu93Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.277G>A
  hgvsp: ENSP00000364011.3:p.Glu93Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.276G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.187G>A
  hgvsp: ENSP00000459489.1:p.Glu63Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.187G>A
  hgvsp: ENSP00000460002.1:p.Glu63Lys
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu93Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

17-78013797-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78013797
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78013797
    reference: chr 17
allele count: 4
allele frequency: 3.312574532926991e-5
allele num: 120752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000576241
  gene symbol: CCDC40
  hgvsc: ENST00000576241.1:n.266G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000459489
  ensembl transcript: ENST00000576033
  gene symbol: CCDC40
  hgvsc: ENST00000576033.1:c.190G>C
  hgvsp: ENSP00000459489.1:p.Glu64Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572083
  gene symbol: CCDC40
  hgvsc: ENST00000572083.1:n.279G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000460002
  ensembl transcript: ENST00000574099
  gene symbol: CCDC40
  hgvsc: ENST00000574099.1:c.190G>C
  hgvsp: ENSP00000460002.1:p.Glu64Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364010
  ensembl transcript: ENST00000374876
  gene symbol: CCDC40
  hgvsc: ENST00000374876.4:c.280G>C
  hgvsp: ENSP00000364010.4:p.Glu94Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572270
  gene symbol: CCDC40
  hgvsc: ENST00000572270.1:n.293G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.280G>C
  hgvsp: ENSP00000380679.4:p.Glu94Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.280G>C
  hgvsp: ENSP00000364011.3:p.Glu94Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000269318
  ensembl transcript: ENST00000269318
  gene symbol: CCDC40
  hgvsc: ENST00000269318.5:c.280G>C
  hgvsp: ENSP00000269318.5:p.Glu94Gln
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu94Gln
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4924
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4330
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508750754375377e-5
allele num: 66280
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

QD
type: SiteQuality
SIO_000300: 8.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: -5.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 1.853789e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQ
type: SiteQuality
SIO_000300: 5.166e1

FS
type: SiteQuality
SIO_000300: 1.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31293
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.796429399489915e-4
allele num: 8626
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.853703e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3064
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
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: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.059e1

FS
type: SiteQuality
SIO_000300: 8.066000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.124e0

DP
type: SiteQuality
SIO_000300: 1.855764e6

VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 8628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.419e0

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.643e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.856373e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 900
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.055e0

QD
type: SiteQuality
SIO_000300: 1.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.044e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.856856e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.59e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.898e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.579e-1

FS
type: SiteQuality
SIO_000300: 5.701e0

DP
type: SiteQuality
SIO_000300: 1.856853e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 9.59e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 4.094e0

QD
type: SiteQuality
SIO_000300: 1.417e1

DP
type: SiteQuality
SIO_000300: 1.856881e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.541e0

VQSLOD
type: SiteQuality
SIO_000300: -3.614e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1763
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.85592e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.096e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.055e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 4.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.015772490123345e-5
allele num: 66318
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

East Asian
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allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.93e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.871e1

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: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

South Asian
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allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032324580023046e-5
allele num: 65956
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516162290011523e-5
allele num: 65956
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.802379e6

MQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

FS
type: SiteQuality
SIO_000300: 6.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

GenotypeQuality
all individuals: 4171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 629
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.536570374923171e-4
allele num: 6508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.795626e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.194e1

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
all individuals: 1690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4839
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6764
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65304
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.186802753382388e-4
allele num: 8426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.394e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.647492e6

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3823
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7632
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 2.353738e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.569e0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006524157421605e-5
allele num: 66522
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: 11570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 1.932e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.218e1

DP
type: SiteQuality
SIO_000300: 2.360094e6

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4154
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.184929139301763e-4
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

FS
type: SiteQuality
SIO_000300: 2.068e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 2.373036e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.846e0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4950
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

FS
type: SiteQuality
SIO_000300: 1.417e0

QD
type: SiteQuality
SIO_000300: 1.038e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.742e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.382961e6

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

GenotypeQuality
all individuals: 3881
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25904
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10963
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
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: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00336376741951e-5
allele num: 66592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.029e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.647e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 2.385898e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.125e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25905
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3883
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2914
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e0

VQSLOD
type: SiteQuality
SIO_000300: -5.225e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.387873e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.81e-1

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4217
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25907
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
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: 6612
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.389605e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.879e-1

QD
type: SiteQuality
SIO_000300: 5.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 3884
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
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: 11572
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

DP
type: SiteQuality
SIO_000300: 2.39204e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25913
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5005
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variant carriers: 0

GenotypeQuality
all individuals: 4242
bin: 8.25e1
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GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 11295
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
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Other
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ClippingRankSum
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DP
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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SIO_000300: 4.56e-1

ReadPosRankSum
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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: 8652
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.063e1

VQSLOD
type: SiteQuality
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DP
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MQ
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SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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MQRankSum
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SIO_000300: -5.09e-1

ReadPosRankSum
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MQ
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
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African
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allele frequency: 1.922337562475971e-4
allele num: 10404
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Latino
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European (Non-Finnish)
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allele frequency: 2.997332374186974e-5
allele num: 66726
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66726
num of homozygotes: 0

Latino
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Other
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East Asian
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European (Finnish)
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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South Asian
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele num: 16512
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

African
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Latino
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European (Non-Finnish)
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allele num: 66730
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Other
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East Asian
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South Asian
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DP
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e0

MQRankSum
type: SiteQuality
SIO_000300: -1.69e-1

FS
type: SiteQuality
SIO_000300: 1.766e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5092
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
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: 1.275e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 2.401395e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

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

GenotypeQuality
all individuals: 11616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2964
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
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: 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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.404e1

FS
type: SiteQuality
SIO_000300: 5.0921e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.04e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 2.401436e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.036e0

QD
type: SiteQuality
SIO_000300: 4.01e0

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

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

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25922
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

FS
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.397e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 2.401521e6

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5096
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.401516e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e0

MQRankSum
type: SiteQuality
SIO_000300: -1.475e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 5.077e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: -2.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.021e1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25922
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3906
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 2.167e0

QD
type: SiteQuality
SIO_000300: 1.152e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.399456e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

GenotypeQuality
all individuals: 11392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.683e0

DP
type: SiteQuality
SIO_000300: 2.399462e6

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25921
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.48e1

DP
type: SiteQuality
SIO_000300: 2.394165e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001110410852015e-5
allele num: 66642
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 16378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.391794e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.109e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.611e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.142857142857142e-2
allele num: 14
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.9029e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.677e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.27e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

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

African
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allele count: 4
allele frequency: 1.06951871657754e-2
allele num: 374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

European (Non-Finnish)
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: 114
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e-1

FS
type: SiteQuality
SIO_000300: 4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

DP
type: SiteQuality
SIO_000300: 2.9169e4

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.94e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.9342e4

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.92e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.82e1

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

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.99e-2

DP
type: SiteQuality
SIO_000300: 2.9362e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.909999999999999e-2

QD
type: SiteQuality
SIO_000300: 2.82e1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2683
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.208333333333334e-2
allele num: 96
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 9.408602150537634e-2
allele num: 372
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.002227171492205e-2
allele num: 898
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

QD
type: SiteQuality
SIO_000300: 1.431e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.0663e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.03e-2

FS
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 5.25e1
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: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.785e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.076e0

VQSLOD
type: SiteQuality
SIO_000300: -1.117e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.763664e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1275
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4009
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 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: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.363e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.77e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.188e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.78451e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.439e0

GenotypeQuality
all individuals: 1723
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4007
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variant carriers: 1

GenotypeQuality
all individuals: 686
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.954210631096954e-5
allele num: 10046
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: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.052e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 8.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

DP
type: SiteQuality
SIO_000300: 1.792666e6

VQSLOD
type: SiteQuality
SIO_000300: -6.522e-1

GenotypeQuality
all individuals: 688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1724
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variant carriers: 0

GenotypeQuality
all individuals: 1926
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variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012138919846983e-5
allele num: 66398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.555e1

DP
type: SiteQuality
SIO_000300: 1.794068e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 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: 11560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
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: 16496
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.183e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.995e1

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

DP
type: SiteQuality
SIO_000300: 1.697846e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.744e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -8.577e-1

DP
type: SiteQuality
SIO_000300: 1.797893e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.433e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

DP
type: SiteQuality
SIO_000300: 1.80081e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.168e0

QD
type: SiteQuality
SIO_000300: 1.364e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 1272
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.059871530723549e-4
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.484e1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.139e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4003
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 6608
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.111e0

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.804787e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.006907944135756e-5
allele num: 66590
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.111e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

DP
type: SiteQuality
SIO_000300: 1.804787e6

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.136e1

MQRankSum
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SIO_000300: -1.611e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ClippingRankSum
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SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 8.29e-1

DP
type: SiteQuality
SIO_000300: 1.804557e6

VQSLOD
type: SiteQuality
SIO_000300: -3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.976e1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

FS
type: SiteQuality
SIO_000300: 2.473e0

MQRankSum
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SIO_000300: -2.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
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SIO_000300: -1.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.311e0

DP
type: SiteQuality
SIO_000300: 1.804189e6

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.80419e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.023e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 1.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.687e-1

DP
type: SiteQuality
SIO_000300: 1.804046e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.806e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 16510
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

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

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

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

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

African
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Finnish)
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allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 55
allele frequency: 8.242664029014178e-4
allele num: 66726
num of homozygotes: 0

African
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allele frequency: 2.039151712887439e-4
allele num: 9808
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East Asian
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South Asian
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Other
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BaseQRankSum
type: SiteQuality
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002101471029721e-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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 2.488e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 1.685066e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 9707
bin: 6.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 4.062e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.337e0

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.24e-1

DP
type: SiteQuality
SIO_000300: 1.686244e6

GenotypeQuality
all individuals: 2944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 521
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variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 9.75e1
variant carriers: 13

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348637875745497e-4
allele num: 66734
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

DP
type: SiteQuality
SIO_000300: 1.686309e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

FS
type: SiteQuality
SIO_000300: 2.537e0

QD
type: SiteQuality
SIO_000300: 1.431e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

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

GenotypeQuality
all individuals: 2786
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 601
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variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.301e1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.685563e6

FS
type: SiteQuality
SIO_000300: 3.095e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

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

GenotypeQuality
all individuals: 2937
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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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
all individuals: 12
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GenotypeQuality
all individuals: 1419
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 597
bin: 9.25e1
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: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.184033177812338e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993946114424431e-5
allele num: 66734
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.685611e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.388e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 518
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variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.685611e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.388e1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1596
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 900
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.726e0

QD
type: SiteQuality
SIO_000300: 8.51e0

MQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 5.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.628e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.684999e6