16-22325448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325448
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325448
    reference: chr 16
allele count: 2
allele frequency: 1.684352366515075e-5
allele num: 118740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.413C>T
  hgvsp: ENSP00000399254.2:p.Thr138Met
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.642C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*192C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.521C>T
  hgvsp: ENSP00000299853.5:p.Thr174Met
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.521C>T
  hgvsp: ENSP00000456967.1:p.Thr174Met
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.521C>T
  hgvsp: ENSP00000352140.4:p.Thr174Met
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr174Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

16-22325449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325449
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325449
    reference: chr 16
allele count: 2
allele frequency: 1.686738859089836e-5
allele num: 118572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522G>A
  hgvsp: ENST00000564209.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414G>A
  hgvsp: ENST00000418581.2:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522G>A
  hgvsp: ENST00000299853.5:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522G>A
  hgvsp: ENST00000359210.4:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19533
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
hgvs: c.522G>A
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

16-22325449-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325449
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325449
    reference: chr 16
allele count: 2
allele frequency: 1.686738859089836e-5
allele num: 118572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193G>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414G>T
  hgvsp: ENST00000418581.2:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522G>T
  hgvsp: ENST00000564209.1:c.522G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643G>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522G>T
  hgvsp: ENST00000299853.5:c.522G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522G>T
  hgvsp: ENST00000359210.4:c.522G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91G>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.25e1
  variant carriers: 0
hgvs: c.522G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

16-22325458-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325458
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325458
    reference: chr 16
allele count: 6
allele frequency: 5.078978109604347e-5
allele num: 118134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+9T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+9T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+9T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+9T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+9T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+9T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+9T>C
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19763
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

16-22325461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325461
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325461
    reference: chr 16
allele count: 3
allele frequency: 2.546257002206756e-5
allele num: 117820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+12C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+12C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+12C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+12C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+12C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+12C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+12C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17666
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31176
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

16-22325462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325462
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325462
    reference: chr 16
allele count: 1
allele frequency: 8.485362749257531e-6
allele num: 117850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+13C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19277
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

16-22325470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325470
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325470
    reference: chr 16
allele count: 75
allele frequency: 6.395497569710924e-4
allele num: 117270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+21G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+21G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+21G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+21G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+21G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+21G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+21G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17858
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

16-22325480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325480
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325480
    reference: chr 16
allele count: 1
allele frequency: 8.579125272387228e-6
allele num: 116562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+31C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+31C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+31C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+31C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+31C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+31C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+31C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11258
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-22325482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325482
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325482
    reference: chr 16
allele count: 3
allele frequency: 2.579092159559835e-5
allele num: 116320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+33G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+33G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+33G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+33G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+33G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+33G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+33G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

16-22325484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325484
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325484
    reference: chr 16
allele count: 1
allele frequency: 8.606740799394086e-6
allele num: 116188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+35C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+35C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+35C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+35C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+35C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+35C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+35C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10754
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

16-22325489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325489
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325489
    reference: chr 16
allele count: 13
allele frequency: 1.128981832076979e-4
allele num: 115148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+40C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+40C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+40C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+40C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+40C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+40C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+40C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14077
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5778
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14280
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

16-22325490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325490
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325490
    reference: chr 16
allele count: 3
allele frequency: 2.607607259578611e-5
allele num: 115048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+41G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+41G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+41G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+41G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+41G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+41G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+41G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5885
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

16-22325501-C-CAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22325501
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22325503
    reference: chr 16
allele count: 1
allele frequency: 8.856454584100893e-6
allele num: 112912
alternate allele: CAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.522+56_522+57dupGA
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.522+56_522+57dupGA
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*193+56_*193+57dupGA
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*91+56_*91+57dupGA
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.414+56_414+57dupGA
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.643+56_643+57dupGA
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.522+56_522+57dupGA
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

16-22326380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326380
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326380
    reference: chr 16
allele count: 16
allele frequency: 1.404001404001404e-4
allele num: 113960
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.523-30C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*92-30C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*194-30C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.523-30C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-246C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.415-30C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.644-30C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.523-30C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24361
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16744
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-22326381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326381
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326381
    reference: chr 16
allele count: 3
allele frequency: 2.630794324499711e-5
allele num: 114034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*92-29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.523-29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*194-29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.415-29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.523-29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.644-29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.523-29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-245G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16864
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-22326388-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326388
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326388
    reference: chr 16
allele count: 1
allele frequency: 8.787655102112552e-6
allele num: 113796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*194-22C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.644-22C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-238C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.415-22C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.523-22C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.523-22C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.523-22C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*92-22C>A
  variant of: http://identifiers.org/hgnc/30347
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25059
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-22326405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326405
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326405
    reference: chr 16
allele count: 1189
allele frequency: 1.047983359187703e-2
allele num: 113456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.644-5C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.415-5C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-221C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.523-5C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*92-5C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.523-5C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*194-5C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.523-5C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 18143
  bin: 2.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 25467
  bin: 2.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 1.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 3.25e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5422
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 1
hgvs: c.523-5C>T
num of homozygotes: 41
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum

16-22326406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326406
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326406
    reference: chr 16
allele count: 6
allele frequency: 5.295114374470489e-5
allele num: 113312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*92-4G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*194-4G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.523-4G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.644-4G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.523-4G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-220G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.415-4G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.523-4G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25548
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
hgvs: c.523-4G>A
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

16-22326412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326412
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326412
    reference: chr 16
allele count: 18
allele frequency: 1.591483793390037e-4
allele num: 113102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*196G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*94G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-214G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.525G>A
  hgvsp: ENST00000299853.5:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.525G>A
  hgvsp: ENST00000359210.4:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.646G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.417G>A
  hgvsp: ENST00000418581.2:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.525G>A
  hgvsp: ENST00000564209.1:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18582
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25812
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 9.75e1
  variant carriers: 18
hgvs: c.525G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

16-22326413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326413
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326413
    reference: chr 16
allele count: 1
allele frequency: 8.873586881289154e-6
allele num: 112694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.418C>T
  hgvsp: ENSP00000399254.2:p.Arg140Trp
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-213C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.526C>T
  hgvsp: ENSP00000456967.1:p.Arg176Trp
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.526C>T
  hgvsp: ENSP00000352140.4:p.Arg176Trp
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.526C>T
  hgvsp: ENSP00000299853.5:p.Arg176Trp
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.647C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg176Trp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

16-22326417-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326417
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326417
    reference: chr 16
allele count: 1
allele frequency: 8.89015326624231e-6
allele num: 112484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-209T>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.422T>A
  hgvsp: ENSP00000399254.2:p.Phe141Tyr
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.530T>A
  hgvsp: ENSP00000299853.5:p.Phe177Tyr
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.530T>A
  hgvsp: ENSP00000352140.4:p.Phe177Tyr
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*99T>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.530T>A
  hgvsp: ENSP00000456967.1:p.Phe177Tyr
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*201T>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.651T>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18716
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe177Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-22326420-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326420
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326420
    reference: chr 16
allele count: 1
allele frequency: 8.916629514043692e-6
allele num: 112150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*204C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.654C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.533C>G
  hgvsp: ENSP00000299853.5:p.Ser178Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.425C>G
  hgvsp: ENSP00000399254.2:p.Ser142Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.533C>G
  hgvsp: ENSP00000352140.4:p.Ser178Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*102C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-206C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.533C>G
  hgvsp: ENSP00000456967.1:p.Ser178Cys
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser178Cys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/16-22326421-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326421
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326421
    reference: chr 16
allele count: 1
allele frequency: 8.92968763952637e-6
allele num: 111986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*205C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-205C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.426C>A
  hgvsp: ENST00000418581.2:c.426C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.534C>A
  hgvsp: ENST00000564209.1:c.534C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.534C>A
  hgvsp: ENST00000359210.4:c.534C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.534C>A
  hgvsp: ENST00000299853.5:c.534C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.655C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*103C>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser178Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/16-22326422-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326422
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326422
    reference: chr 16
allele count: 3
allele frequency: 2.686871943683164e-5
allele num: 111654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-204C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.656C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.535C>A
  hgvsp: ENST00000299853.5:c.535C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.535C>A
  hgvsp: ENST00000359210.4:c.535C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*104C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.427C>A
  hgvsp: ENST00000418581.2:c.427C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.535C>A
  hgvsp: ENST00000564209.1:c.535C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*206C>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24891
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7146
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg179Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

16-22326423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326423
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326423
    reference: chr 16
allele count: 1
allele frequency: 8.943423900406031e-6
allele num: 111814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.657G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.536G>A
  hgvsp: ENSP00000299853.5:p.Arg179Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*207G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.428G>A
  hgvsp: ENSP00000399254.2:p.Arg143Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-203G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.536G>A
  hgvsp: ENSP00000456967.1:p.Arg179Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.536G>A
  hgvsp: ENSP00000352140.4:p.Arg179Gln
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18855
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg179Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff

16-22326424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326424
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326424
    reference: chr 16
allele count: 1
allele frequency: 8.960573476702509e-6
allele num: 111600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.537G>A
  hgvsp: ENST00000564209.1:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.658G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*208G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.537G>A
  hgvsp: ENST00000359210.4:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-202G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.429G>A
  hgvsp: ENST00000418581.2:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.537G>A
  hgvsp: ENST00000299853.5:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg179Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

16-22326426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326426
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326426
    reference: chr 16
allele count: 6
allele frequency: 5.389479735556194e-5
allele num: 111328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-200C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.539C>T
  hgvsp: ENSP00000456967.1:p.Pro180Leu
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.431C>T
  hgvsp: ENSP00000399254.2:p.Pro144Leu
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*108C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.539C>T
  hgvsp: ENSP00000299853.5:p.Pro180Leu
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.660C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.539C>T
  hgvsp: ENSP00000352140.4:p.Pro180Leu
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*210C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18767
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24881
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro180Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

16-22326427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326427
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326427
    reference: chr 16
allele count: 1
allele frequency: 8.998794161582347e-6
allele num: 111126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.661G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.540G>A
  hgvsp: ENST00000564209.1:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*211G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.540G>A
  hgvsp: ENST00000299853.5:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.540G>A
  hgvsp: ENST00000359210.4:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-199G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.432G>A
  hgvsp: ENST00000418581.2:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro180Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

16-22326443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326443
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326443
    reference: chr 16
allele count: 1
allele frequency: 9.471490812653911e-6
allele num: 105580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.556C>T
  hgvsp: ENSP00000299853.5:p.Arg186Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.556C>T
  hgvsp: ENSP00000456967.1:p.Arg186Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.677C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.448C>T
  hgvsp: ENSP00000399254.2:p.Arg150Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.556C>T
  hgvsp: ENSP00000352140.4:p.Arg186Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*227C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-183C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20975
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg186Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

16-22326451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326451
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326451
    reference: chr 16
allele count: 8
allele frequency: 7.827022796203894e-5
allele num: 102210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.456C>T
  hgvsp: ENST00000418581.2:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.564C>T
  hgvsp: ENST00000564209.1:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*235C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.564C>T
  hgvsp: ENST00000299853.5:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.564C>T
  hgvsp: ENST00000359210.4:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*133C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.685C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16442
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg188Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

16-22326453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326453
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326453
    reference: chr 16
allele count: 2
allele frequency: 1.980237232420444e-5
allele num: 100998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.566G>A
  hgvsp: ENSP00000352140.4:p.Arg189His
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.687G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.458G>A
  hgvsp: ENSP00000399254.2:p.Arg153His
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.566G>A
  hgvsp: ENSP00000456967.1:p.Arg189His
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.566G>A
  hgvsp: ENSP00000299853.5:p.Arg189His
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*135G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-173G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*237G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg189His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

16-22326459-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326459
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326459
    reference: chr 16
allele count: 30
allele frequency: 3.10199354785342e-4
allele num: 96712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.693A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.464A>G
  hgvsp: ENSP00000399254.2:p.Gln155Arg
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*243A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.572A>G
  hgvsp: ENSP00000456967.1:p.Gln191Arg
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.572A>G
  hgvsp: ENSP00000352140.4:p.Gln191Arg
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.572A>G
  hgvsp: ENSP00000299853.5:p.Gln191Arg
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-167A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9839
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17142
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14497
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln191Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

16-22326478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326478
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326478
    reference: chr 16
allele count: 1
allele frequency: 1.240387000744232e-5
allele num: 80620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.483G>A
  hgvsp: ENST00000418581.2:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.591G>A
  hgvsp: ENST00000359210.4:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.712G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.591G>A
  hgvsp: ENST00000564209.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*262G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.591G>A
  hgvsp: ENST00000299853.5:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*160G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln197Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/16-22326479-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326479
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326479
    reference: chr 16
allele count: 1
allele frequency: 1.239495277522993e-5
allele num: 80678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.484A>C
  hgvsp: ENSP00000399254.2:p.Lys162Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-147A>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*161A>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.592A>C
  hgvsp: ENSP00000299853.5:p.Lys198Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*263A>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.592A>C
  hgvsp: ENSP00000456967.1:p.Lys198Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.592A>C
  hgvsp: ENSP00000352140.4:p.Lys198Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.713A>C
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys198Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

16-22326481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326481
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326481
    reference: chr 16
allele count: 1
allele frequency: 1.297353399065906e-5
allele num: 77080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.486G>A
  hgvsp: ENST00000418581.2:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.594G>A
  hgvsp: ENST00000299853.5:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.594G>A
  hgvsp: ENST00000359210.4:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*265G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.715G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*163G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.594G>A
  hgvsp: ENST00000564209.1:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-145G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20087
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys198Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/16-22326482-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326482
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326482
    reference: chr 16
allele count: 1
allele frequency: 1.297151455403933e-5
allele num: 77092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.487A>C
  hgvsp: ENSP00000399254.2:p.Lys163Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*266A>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.595A>C
  hgvsp: ENSP00000299853.5:p.Lys199Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.716A>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.595A>C
  hgvsp: ENSP00000352140.4:p.Lys199Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.595A>C
  hgvsp: ENSP00000456967.1:p.Lys199Gln
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*164A>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-144A>C
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys199Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-22326485-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326485
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326485
    reference: chr 16
allele count: 1
allele frequency: 1.336541031809677e-5
allele num: 74820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-141C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.598C>A
  hgvsp: ENSP00000456967.1:p.His200Asn
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.719C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*167C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.598C>A
  hgvsp: ENSP00000299853.5:p.His200Asn
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*269C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.598C>A
  hgvsp: ENSP00000352140.4:p.His200Asn
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.490C>A
  hgvsp: ENSP00000399254.2:p.His164Asn
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16442
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His200Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

16-22326487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326487
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326487
    reference: chr 16
allele count: 11
allele frequency: 1.52443249535741e-4
allele num: 72158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.600C>T
  hgvsp: ENST00000299853.5:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.600C>T
  hgvsp: ENST00000564209.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*169C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*271C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-139C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.600C>T
  hgvsp: ENST00000359210.4:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.492C>T
  hgvsp: ENST00000418581.2:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.721C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His200His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

16-22326503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326503
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326503
    reference: chr 16
allele count: 1
allele frequency: 1.652018766933192e-5
allele num: 60532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.616G>A
  hgvsp: ENSP00000352140.4:p.Val206Ile
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.616G>A
  hgvsp: ENSP00000299853.5:p.Val206Ile
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.508G>A
  hgvsp: ENSP00000399254.2:p.Val170Ile
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.616G>A
  hgvsp: ENSP00000456967.1:p.Val206Ile
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*185G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.737G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*287G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val206Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-22326508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326508
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326508
    reference: chr 16
allele count: 1
allele frequency: 1.727831916511162e-5
allele num: 57876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-118C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.621C>T
  hgvsp: ENST00000359210.4:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.513C>T
  hgvsp: ENST00000418581.2:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*190C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.742C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*292C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.621C>T
  hgvsp: ENST00000299853.5:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.621C>T
  hgvsp: ENST00000564209.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5907
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His207His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

16-22326523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326523
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326523
    reference: chr 16
allele count: 1
allele frequency: 1.988704160369103e-5
allele num: 50284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.636C>T
  hgvsp: ENST00000564209.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.528C>T
  hgvsp: ENST00000418581.2:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*205C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.636C>T
  hgvsp: ENST00000359210.4:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.636C>T
  hgvsp: ENST00000299853.5:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-103C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.757C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*307C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly212Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

16-22326524-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326524
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326524
    reference: chr 16
allele count: 3
allele frequency: 6.044487427466151e-5
allele num: 49632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.637C>G
  hgvsp: ENSP00000456967.1:p.Leu213Val
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.758C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.637C>G
  hgvsp: ENSP00000352140.4:p.Leu213Val
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*308C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.637C>G
  hgvsp: ENSP00000299853.5:p.Leu213Val
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*206C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.529C>G
  hgvsp: ENSP00000399254.2:p.Leu177Val
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-102C>G
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24997
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13192
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu213Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

16-22326528-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326528
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326528
    reference: chr 16
allele count: 4
allele frequency: 8.837044892188053e-5
allele num: 45264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*210G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.641G>A
  hgvsp: ENSP00000352140.4:p.Arg214Lys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.641G>A
  hgvsp: ENSP00000456967.1:p.Arg214Lys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.533G>A
  hgvsp: ENSP00000399254.2:p.Arg178Lys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.762G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.641G>A
  hgvsp: ENSP00000299853.5:p.Arg214Lys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*312G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-98G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13637
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg214Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

16-22326535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326535
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326535
    reference: chr 16
allele count: 1
allele frequency: 2.453385672227674e-5
allele num: 40760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+6C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+6C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+6C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+6C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+6C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+6C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+6C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+6C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10280
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16387
  bin: 7.5e0
  variant carriers: 0
hgvs: c.642+6C>T
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

16-22326536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326536
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326536
    reference: chr 16
allele count: 2
allele frequency: 5.509641873278237e-5
allele num: 36300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+7G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+7G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+7G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+7G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+7G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+7G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+7G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+7G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22704
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21351
  bin: 2.25e1
  variant carriers: 1
hgvs: c.642+7G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-22326543-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326543
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326543
    reference: chr 16
allele count: 1
allele frequency: 2.874223959530927e-5
allele num: 34792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+14C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+14C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+14C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+14C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+14C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+14C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+14C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+14C>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

16-22326543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326543
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326543
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 34792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+14C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+14C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+14C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+14C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+14C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+14C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+14C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+14C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22625
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19645
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

16-22326544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326544
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326544
    reference: chr 16
allele count: 2
allele frequency: 5.985156811108451e-5
allele num: 33416
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+15G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+15G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+15G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+15G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+15G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+15G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+15G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+15G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

16-22326544-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326544
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326544
    reference: chr 16
allele count: 2
allele frequency: 5.985156811108451e-5
allele num: 33416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+15G>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+15G>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+15G>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+15G>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+15G>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+15G>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+15G>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+15G>C
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

16-22326553-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326553
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326553
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 30330
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+24T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+24T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+24T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+24T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+24T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+24T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+24T>C
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+24T>C
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20983
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22947
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

16-22326554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326554
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326554
    reference: chr 16
allele count: 1
allele frequency: 3.323363243602526e-5
allele num: 30090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+25G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+25G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+25G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+25G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+25G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+25G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+25G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+25G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23216
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20708
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 2.75e1
  variant carriers: 0
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: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

16-22326558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326558
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326558
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 28226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+29G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+29G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19409
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14244
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

16-22326567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326567
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326567
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 25192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+38C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+38C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+38C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+38C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+38C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+38C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+38C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+38C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19045
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

16-22326574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326574
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326574
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 23764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+45C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+45C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+45C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+45C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+45C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+45C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+45C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+45C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26333
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19306
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24463
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-22326575-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326575
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326575
    reference: chr 16
allele count: 2
allele frequency: 8.482483671218933e-5
allele num: 23578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+46G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+46G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+46G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+46G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+46G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+46G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+46G>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+46G>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26366
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4942
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

16-22326575-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22326575
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22326575
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 23578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.642+46G>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*313+46G>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.642+46G>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-97+46G>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.763+46G>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.534+46G>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*211+46G>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.642+46G>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19319
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

16-22327874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327874
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327874
    reference: chr 16
allele count: 1
allele frequency: 8.624109560687859e-6
allele num: 115954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-48C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-48C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-48C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-48C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-48C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-48C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-48C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-48C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

16-22327880-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327880
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327880
    reference: chr 16
allele count: 1
allele frequency: 8.599783285461207e-6
allele num: 116282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-42C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-42C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-42C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-42C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-42C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-42C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-42C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-42C>G
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8192
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

16-22327883-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327883
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327883
    reference: chr 16
allele count: 9
allele frequency: 7.733819131749906e-5
allele num: 116372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-39C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-39C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-39C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-39C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-39C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-39C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-39C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-39C>G
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18844
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

16-22327894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327894
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327894
    reference: chr 16
allele count: 165
allele frequency: 1.41018409312343e-3
allele num: 117006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-28C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-28C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-28C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-28C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-28C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-28C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-28C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-28C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21319
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 16280
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8795
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 9.75e1
  variant carriers: 157
num of homozygotes: 4
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-22327897-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327897
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327897
    reference: chr 16
allele count: 26
allele frequency: 2.218013683438262e-4
allele num: 117222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-25C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-25C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-25C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-25C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-25C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-25C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-25C>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-25C>G
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16625
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21847
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/16-22327897-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327897
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327897
    reference: chr 16
allele count: 1
allele frequency: 8.530821859377933e-6
allele num: 117222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-25C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-25C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-25C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-25C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-25C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-25C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-25C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-25C>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

16-22327899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327899
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327899
    reference: chr 16
allele count: 1
allele frequency: 8.520645524104906e-6
allele num: 117362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-23C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-23C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-23C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-23C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-23C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-23C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-23C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-23C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

16-22327905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327905
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327905
    reference: chr 16
allele count: 1
allele frequency: 8.48219587086705e-6
allele num: 117894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-17C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-17C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-17C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-17C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-17C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-17C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-17C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-17C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

16-22327909-C-CCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327909
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327911
    reference: chr 16
allele count: 60
allele frequency: 5.071508266558474e-4
allele num: 118308
alternate allele: CCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-11_-96-10dupTC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-11_643-10dupTC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-11_643-10dupTC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-11_764-10dupTC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-11_*212-10dupTC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-11_643-10dupTC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-11_535-10dupTC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-11_*314-10dupTC
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17875
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 22575
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

16-22327909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327909
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327909
    reference: chr 16
allele count: 1
allele frequency: 8.452513777597457e-6
allele num: 118308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-13C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-13C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-22327915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327915
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327915
    reference: chr 16
allele count: 1
allele frequency: 8.422613031466883e-6
allele num: 118728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-7C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-7C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-7C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-7C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-7C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-7C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-7C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-7C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
hgvs: c.643-7C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-22327916-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327916
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327916
    reference: chr 16
allele count: 1
allele frequency: 8.418500496691529e-6
allele num: 118786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-6C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-6C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-6C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-6C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-6C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-6C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-6C>A
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-6C>A
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
hgvs: c.643-6C>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

16-22327918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327918
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327918
    reference: chr 16
allele count: 1
allele frequency: 8.407035006893769e-6
allele num: 118948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*314-4A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.764-4A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.643-4A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.643-4A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.535-4A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*212-4A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.643-4A>G
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-96-4A>G
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
hgvs: c.643-4A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/16-22327923-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327923
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327922
    reference: chr 16
allele count: 1
allele frequency: 8.386025527061704e-6
allele num: 119246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-94delC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*316delC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.766delC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.645delC
  hgvsp: ENSP00000456967.1:p.Asp215GlufsTer32
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.537delC
  hgvsp: ENSP00000399254.2:p.Asp179GlufsTer32
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*214delC
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.645delC
  hgvsp: ENSP00000299853.5:p.Asp215GlufsTer32
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.645delC
  hgvsp: ENSP00000352140.4:p.Asp215GlufsTer32
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp215GlufsTer32
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: AC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

16-22327928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22327928
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 22327928
    reference: chr 16
allele count: 3
allele frequency: 2.51130085384229e-5
allele num: 119460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456967
  ensembl transcript: ENST00000564209
  gene symbol: POLR3E
  hgvsc: ENST00000564209.1:c.649C>T
  hgvsp: ENSP00000456967.1:p.Arg217Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454225
  ensembl transcript: ENST00000565551
  gene symbol: POLR3E
  hgvsc: ENST00000565551.1:c.*218C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000454875
  ensembl transcript: ENST00000569757
  gene symbol: POLR3E
  hgvsc: ENST00000569757.1:c.-90C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000299853
  ensembl transcript: ENST00000299853
  gene symbol: POLR3E
  hgvsc: ENST00000299853.5:c.649C>T
  hgvsp: ENSP00000299853.5:p.Arg217Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000456526
  ensembl transcript: ENST00000564750
  gene symbol: POLR3E
  hgvsc: ENST00000564750.1:c.*320C>T
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000399254
  ensembl transcript: ENST00000418581
  gene symbol: POLR3E
  hgvsc: ENST00000418581.2:c.541C>T
  hgvsp: ENSP00000399254.2:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058600
  ensembl protein: ENSP00000352140
  ensembl transcript: ENST00000359210
  gene symbol: POLR3E
  hgvsc: ENST00000359210.4:c.649C>T
  hgvsp: ENSP00000352140.4:p.Arg217Cys
  variant of: http://identifiers.org/hgnc/30347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058600
  ensembl transcript: ENST00000564061
  gene symbol: POLR3E
  hgvsc: ENST00000564061.1:n.770C>T
  variant of: http://identifiers.org/hgnc/30347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg217Cys
num of homozygotes: 0
reference allele: C

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.05399462496946e-5
allele num: 65488
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8522
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African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -5.0e-4

VQSLOD
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FS
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SIO_000300: 9.51e-1

ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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SIO_000300: 5.25e-1

QD
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MQ
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MQRankSum
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SIO_000300: 1.39e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.058010458395768e-5
allele num: 65402
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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QD
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VQSLOD
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ClippingRankSum
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.058010458395768e-5
allele num: 65402
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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ClippingRankSum
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SIO_000300: 2.99e-1

BaseQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.972e1

FS
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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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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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: 10152
num of homozygotes: 0

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

Other
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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: 9.202736280253996e-5
allele num: 65198
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.926e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
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FS
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SIO_000300: 1.282e0

ReadPosRankSum
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SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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QD
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SIO_000300: 1.252e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65044
num of homozygotes: 0

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

East Asian
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allele count: 3
allele frequency: 3.560408260147163e-4
allele num: 8426
num of homozygotes: 0

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

Latino
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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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BaseQRankSum
type: SiteQuality
SIO_000300: -1.248e0

ReadPosRankSum
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SIO_000300: 1.29e0

DP
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SIO_000300: 1.638223e6

MQRankSum
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SIO_000300: 3.26e-1

InbreedingCoeff
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SIO_000300: -8.0e-4

VQSLOD
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FS
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MQ
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QD
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ClippingRankSum
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SIO_000300: -1.11e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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MQ
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SIO_000300: 5.939e1

MQRankSum
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FS
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InbreedingCoeff
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DP
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 74

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16200
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European (Finnish)
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allele frequency: 5.093378607809847e-4
allele num: 5890
num of homozygotes: 0

African
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allele num: 10096
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Other
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European (Non-Finnish)
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allele num: 64742
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Latino
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East Asian
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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MQ
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 1812
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.860119047619048e-4
allele num: 16128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 2.041e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.106e0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

DP
type: SiteQuality
SIO_000300: 1.498447e6

GenotypeQuality
all individuals: 636
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6967
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5935
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4597
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559429872438636e-5
allele num: 64126
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.169e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

DP
type: SiteQuality
SIO_000300: 1.486976e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

VQSLOD
type: SiteQuality
SIO_000300: -2.061e0

QD
type: SiteQuality
SIO_000300: 1.831e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

GenotypeQuality
all individuals: 2884
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5942
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 679
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1045
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 13
allele frequency: 1.200147710487445e-3
allele num: 10832
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.884e1

FS
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.357e1

DP
type: SiteQuality
SIO_000300: 1.448921e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

GenotypeQuality
all individuals: 1053
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2612
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.719801139045342e-5
allele num: 63562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

QD
type: SiteQuality
SIO_000300: 1.787e1

VQSLOD
type: SiteQuality
SIO_000300: -6.343e-1

FS
type: SiteQuality
SIO_000300: 9.31e-1

DP
type: SiteQuality
SIO_000300: 1.442199e6

MQ
type: SiteQuality
SIO_000300: 5.848e1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 3084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6516
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3829
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.602872347246265e-5
allele num: 62388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.969e1

DP
type: SiteQuality
SIO_000300: 1.409136e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.528e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5326
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.892863903085368e-4
allele num: 63396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.067827348567283e-5
allele num: 11028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.349892008639309e-4
allele num: 14816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.364305e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 1.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 1393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
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GenotypeQuality
all individuals: 2217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577934168586487e-5
allele num: 63374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14918
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.043318348998774e-4
allele num: 9788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.994e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.368281e6

QD
type: SiteQuality
SIO_000300: 2.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 1926
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5689
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193317422434368e-4
allele num: 8380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14990
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.195e0

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 2.504e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.377817e6

QD
type: SiteQuality
SIO_000300: 1.103e1

GenotypeQuality
all individuals: 1237
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 5809
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1112
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 2330
bin: 9.75e1
variant carriers: 1111

GenotypeQuality
all individuals: 36629
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1043
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 9

African
type: Population
allele count: 650
allele frequency: 6.72182006204757e-2
allele num: 9670
num of homozygotes: 25

South Asian
type: Population
allele count: 436
allele frequency: 2.83521914423202e-2
allele num: 15378
num of homozygotes: 15

Other
type: Population
allele count: 6
allele frequency: 7.444168734491315e-3
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 39
allele frequency: 3.567508232711306e-3
allele num: 10932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 58
allele frequency: 9.231846687677076e-4
allele num: 62826
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

DP
type: SiteQuality
SIO_000300: 1.403228e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.17e-2

QD
type: SiteQuality
SIO_000300: 1.393e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5988
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.796163069544365e-4
allele num: 8340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.184814803019204e-5
allele num: 62798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 1.393784e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

FS
type: SiteQuality
SIO_000300: 2.793e0

QD
type: SiteQuality
SIO_000300: 1.041e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.838911364472232e-4
allele num: 10876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.668056713928273e-3
allele num: 9592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15426
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.059e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 1.393616e6

GenotypeQuality
all individuals: 1298
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 1

GenotypeQuality
all individuals: 1190
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.503642039542144e-5
allele num: 15376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

DP
type: SiteQuality
SIO_000300: 1.391392e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.302e1

GenotypeQuality
all individuals: 5433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
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variant carriers: 0

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

GenotypeQuality
all individuals: 1113
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variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.250693802035152e-5
allele num: 10810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62334
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.2e0

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.53e-1

DP
type: SiteQuality
SIO_000300: 1.38951e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.455e0

FS
type: SiteQuality
SIO_000300: 3.512e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1279
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 638
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variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.505334374186833e-5
allele num: 15372
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.89e-1

FS
type: SiteQuality
SIO_000300: 5.021e0

QD
type: SiteQuality
SIO_000300: 1.694e1

DP
type: SiteQuality
SIO_000300: 1.389683e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -9.470000000000001e-2

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 917
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variant carriers: 0

GenotypeQuality
all individuals: 235
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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
all individuals: 1100
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variant carriers: 0

GenotypeQuality
all individuals: 7023
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10742
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.512960791976033e-5
allele num: 15354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

DP
type: SiteQuality
SIO_000300: 1.388226e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

FS
type: SiteQuality
SIO_000300: 1.688e0

VQSLOD
type: SiteQuality
SIO_000300: 2.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e0

QD
type: SiteQuality
SIO_000300: 1.076e1

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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variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.304971943103223e-4
allele num: 15326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.616396728413022e-5
allele num: 61866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.214e0

DP
type: SiteQuality
SIO_000300: 1.386688e6

QD
type: SiteQuality
SIO_000300: 5.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.296e0

FS
type: SiteQuality
SIO_000300: 7.363e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613579888340272e-5
allele num: 61974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15348
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10712
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.38636e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.735e0

QD
type: SiteQuality
SIO_000300: 4.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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
all individuals: 1128
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.363295880149813e-5
allele num: 10680
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.382759e6

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

FS
type: SiteQuality
SIO_000300: 1.032e0

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1280
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GenotypeQuality
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GenotypeQuality
all individuals: 7529
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.380863039399625e-5
allele num: 10660
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.103727714748784e-5
allele num: 61700
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

FS
type: SiteQuality
SIO_000300: 1.505e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.381856e6

QD
type: SiteQuality
SIO_000300: 8.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5156
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623060442770889e-5
allele num: 61612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15292
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.62e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 1.380744e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708642312818235e-5
allele num: 58526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14778
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.313669e6

FS
type: SiteQuality
SIO_000300: 4.352e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 6.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.749e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.524098881369977e-4
allele num: 14482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4506
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

FS
type: SiteQuality
SIO_000300: 2.482e0

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 1.26665e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 9.73e0

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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African
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.785841845846132e-5
allele num: 55996
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14368
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.843e0

DP
type: SiteQuality
SIO_000300: 1.252905e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

QD
type: SiteQuality
SIO_000300: 6.48e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 5.423196319706774e-4
allele num: 53474
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.135847342117219e-4
allele num: 8804
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
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MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 4.553e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6726
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.262750599628909e-5
allele num: 44194
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.80004e5

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3360
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 604
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.260500022605e-5
allele num: 44238
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.373267514714258e-5
allele num: 42136
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.373380168035316e-5
allele num: 42134
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

FS
type: SiteQuality
SIO_000300: 2.024e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.439e0

DP
type: SiteQuality
SIO_000300: 9.31069e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3006
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.449299500342902e-5
allele num: 40828
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.268e0

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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.785167805773743e-4
allele num: 39212
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 5212
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Latino
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allele count: 3
allele frequency: 5.174197999310107e-4
allele num: 5798
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.404773911581779e-5
allele num: 11898
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
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DP
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SIO_000300: 8.81373e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.07370750599373e-5
allele num: 32534
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.757e0

VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.939e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.86246e5

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2046
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.310986964618249e-5
allele num: 10740
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30982
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.66465e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.413e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.766762091306313e-5
allele num: 26548
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1630
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African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.06e-2

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 9.345794392523365e-4
allele num: 3210
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
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BaseQRankSum
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QD
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DP
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FS
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 9684
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 18340
num of homozygotes: 0

South Asian
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allele num: 8994
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Other
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allele frequency: 0.0e0
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DP
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BaseQRankSum
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QD
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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QD
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FS
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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Other
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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QD
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FS
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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African
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East Asian
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South Asian
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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Latino
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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FS
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Other
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East Asian
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African
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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QD
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DP
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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DP
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FS
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3112
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.214e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.725e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.22e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.74291e5

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.448275862068965e-3
allele num: 290
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.231905465288036e-5
allele num: 10832
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 954
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.998e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.73335e5

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 3.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.36e-2

QD
type: SiteQuality
SIO_000300: 7.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 954
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.36e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.256e0

VQSLOD
type: SiteQuality
SIO_000300: -5.998e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

QD
type: SiteQuality
SIO_000300: 7.61e0

DP
type: SiteQuality
SIO_000300: 4.73335e5

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56416192204217e-5
allele num: 63932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.635e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 6.429e0

DP
type: SiteQuality
SIO_000300: 1.497952e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3854
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variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15242
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 1.526379e6

MQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

VQSLOD
type: SiteQuality
SIO_000300: -1.651e0

QD
type: SiteQuality
SIO_000300: 1.125e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 1.773e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.403968551104455e-4
allele num: 64104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.546e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.538634e6

FS
type: SiteQuality
SIO_000300: 5.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 159
allele frequency: 1.614541023558083e-2
allele num: 9848
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552361141295911e-5
allele num: 64418
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.630194634402946e-4
allele num: 11406
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.298850574712644e-3
allele num: 870
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.465e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.587594e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.94e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.396e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 26

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

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

South Asian
type: Population
allele count: 25
allele frequency: 1.609580221478239e-3
allele num: 15532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549474728067185e-5
allele num: 64538
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.559e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.298e1

DP
type: SiteQuality
SIO_000300: 1.598133e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3346
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15532
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64538
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

FS
type: SiteQuality
SIO_000300: 4.559e0

DP
type: SiteQuality
SIO_000300: 1.598133e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

GenotypeQuality
all individuals: 2248
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3443
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GenotypeQuality
all individuals: 29265
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3364
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GenotypeQuality
all individuals: 1115
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GenotypeQuality
all individuals: 320
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GenotypeQuality
all individuals: 328
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GenotypeQuality
all individuals: 1083
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variant carriers: 0

GenotypeQuality
all individuals: 4017
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
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European (Non-Finnish)
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Latino
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Other
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South Asian
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European (Finnish)
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African
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FS
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MQ
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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MQ
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 8.923626069296572e-4
allele num: 64996
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

African
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allele frequency: 1.000200040008002e-4
allele num: 9998
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6510
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Latino
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allele frequency: 0.0e0
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South Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64996
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MQ
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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Other
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South Asian
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European (Non-Finnish)
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
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African
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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FS
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QD
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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QD
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FS
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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DP
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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