http://identifiers.org/exac.variant/19-36605303-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605303
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605303
    reference: chr 19
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.709T>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.245T>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.126T>G
  hgvsp: ENSP00000221859.3:p.Cys42Trp
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.126T>G
  hgvsp: ENSP00000465755.1:p.Cys42Trp
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+7A>C
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.459T>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.104T>G
  hgvsp: ENSP00000467134.1:p.Val35Gly
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.71T>G
  hgvsp: ENSP00000465455.1:p.Val24Gly
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5044
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys42Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

19-36605310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605310
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605310
    reference: chr 19
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.97G>A
  hgvsp: ENSP00000467134.1:p.Gly33Arg
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.238G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.452G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.119G>A
  hgvsp: ENSP00000465755.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.64G>A
  hgvsp: ENSP00000465455.1:p.Gly22Arg
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.119G>A
  hgvsp: ENSP00000221859.3:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+14C>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.702G>A
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg40Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-36605318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605318
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605318
    reference: chr 19
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-4G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-4G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-4G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-4G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-4G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+22C>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.694G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.444G>A
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
hgvs: c.115-4G>A
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: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

19-36605324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605324
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605324
    reference: chr 19
allele count: 6
allele frequency: 4.980823828261195e-5
allele num: 120462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-10C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-10C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-10C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.688C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-10C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-10C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.438C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+28G>A
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-36605327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605327
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605327
    reference: chr 19
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-13C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-13C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-13C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+31G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.435C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.685C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-13C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-13C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-36605333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605333
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605333
    reference: chr 19
allele count: 1
allele frequency: 8.316284949187499e-6
allele num: 120246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-19C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-19C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-19C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.679C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-19C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.429C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-19C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+37G>A
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-36605334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605334
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605334
    reference: chr 19
allele count: 1
allele frequency: 8.317530026283395e-6
allele num: 120228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.428C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-20C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+38G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.678C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-20C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-20C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-20C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-20C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

19-36605336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605336
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605336
    reference: chr 19
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-22C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-22C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+40G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.426C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-22C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-22C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.676C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-22C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

19-36605341-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605341
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605341
    reference: chr 19
allele count: 3
allele frequency: 2.497544081653041e-5
allele num: 120118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-27C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-27C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-27C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-27C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.421C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.671C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-27C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+45G>C
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12709
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

19-36605342-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605342
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605342
    reference: chr 19
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.670C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-28C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.420C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+46G>C
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-28C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-28C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-28C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-28C>G
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

19-36605345-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605345
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605345
    reference: chr 19
allele count: 3
allele frequency: 2.498459283441878e-5
allele num: 120074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-31C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-31C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+49G>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.667C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-31C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.417C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-31C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-31C>A
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

19-36605348-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605348
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605348
    reference: chr 19
allele count: 1
allele frequency: 8.329723786359244e-6
allele num: 120052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.414T>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-34T>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.664T>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+52A>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-34T>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-34T>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-34T>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-34T>A
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

19-36605349-C-CGGAAGGATTCCAGACAAGATTGGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605349
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605374
    reference: chr 19
allele count: 1
allele frequency: 8.338197281747686e-6
allele num: 119930
alternate allele: CGGAAGGATTCCAGACAAGATTGGGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 18148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5039
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-36605350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605350
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605350
    reference: chr 19
allele count: 1
allele frequency: 8.342231713828083e-6
allele num: 119872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+54G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-36C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-36C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-36C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-36C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.662C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.412C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-36C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12341
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-36605351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605351
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605351
    reference: chr 19
allele count: 1
allele frequency: 8.342092530490349e-6
allele num: 119874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.411C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+55G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-37C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.661C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-37C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-37C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-37C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-37C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17769
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-36605355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605355
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605355
    reference: chr 19
allele count: 1
allele frequency: 8.348360382020972e-6
allele num: 119784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-41C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.657C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.407C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-41C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+59G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-41C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-41C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-41C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12485
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-36605363-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605363
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605363
    reference: chr 19
allele count: 1
allele frequency: 8.366100560528738e-6
allele num: 119530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.60-49T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.649T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.115-49T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.115-49T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.93-49T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.234-49T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.399T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+67A>G
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-36605511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605511
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605511
    reference: chr 19
allele count: 2
allele frequency: 1.75214199358716e-5
allele num: 114146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.251C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+50C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+215G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+50C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.501C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+50C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+189C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+50C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4735
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-36605512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605512
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605512
    reference: chr 19
allele count: 9
allele frequency: 7.877185919092549e-5
allele num: 114254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+216G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+49C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+49C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+49C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+188C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+49C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.250C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.500C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

19-36605512-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605512
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605512
    reference: chr 19
allele count: 5
allele frequency: 4.37621439949586e-5
allele num: 114254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+216G>C
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.500C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+49C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+49C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+188C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.250C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+49C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+49C>G
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-36605518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605518
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605518
    reference: chr 19
allele count: 3
allele frequency: 2.622102576652799e-5
allele num: 114412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.244C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.494C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+182C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+43C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+43C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+43C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+43C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+222G>A
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

19-36605522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605522
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605522
    reference: chr 19
allele count: 1
allele frequency: 8.727526618956187e-6
allele num: 114580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.490C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+39C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+178C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+39C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.240C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+226G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+39C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+39C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-36605523-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605523
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605523
    reference: chr 19
allele count: 7
allele frequency: 6.107243190423842e-5
allele num: 114618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.489C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+38C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.239C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+177C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+227G>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+38C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+38C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+38C>A
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

19-36605529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605529
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605529
    reference: chr 19
allele count: 1
allele frequency: 8.700191404210892e-6
allele num: 114940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.483C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+233G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+32C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.233C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+32C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+32C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+171C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+32C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

19-36605530-TGGACCTGCCGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605530
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605518
    reference: chr 19
allele count: 1
allele frequency: 8.70716076901644e-6
allele num: 114848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: TGGACCTGCCGGG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

19-36605542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605542
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605542
    reference: chr 19
allele count: 2
allele frequency: 1.722000275520044e-5
allele num: 116144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+158C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+19C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+19C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.220C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+19C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+19C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.470C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+246G>A
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-36605548-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605548
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605548
    reference: chr 19
allele count: 1
allele frequency: 8.575740944017563e-6
allele num: 116608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+13G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+252C>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.464G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+152G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+13G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+13G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+13G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.214G>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10851
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

19-36605552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605552
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605552
    reference: chr 19
allele count: 9164
allele frequency: 7.793179692150692e-2
allele num: 117590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.233+9C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+256G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+148C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.460C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.92+9C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.114+9C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.210C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.114+9C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 5.75e1
  variant carriers: 804
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 2.75e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 715
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 595
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.75e1
  variant carriers: 418
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 507
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 6.75e1
  variant carriers: 695
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 3.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 5.25e1
  variant carriers: 772
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 783
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.75e1
  variant carriers: 612
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 4.25e1
  variant carriers: 557
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 338
genotype quality: GenotypeQuality
  all individuals: 4802
  bin: 6.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9643
  bin: 6.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 1
num of homozygotes: 413
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

19-36605567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605567
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605567
    reference: chr 19
allele count: 1
allele frequency: 8.369741709770836e-6
allele num: 119478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.86C>T
  hgvsp: ENSP00000467134.1:p.Ser29Phe
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.108C>T
  hgvsp: ENST00000221859.4:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+271G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.108C>T
  hgvsp: ENST00000592962.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.445C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.195C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.227C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+133C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser29Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-36605567-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605567
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605567
    reference: chr 19
allele count: 2
allele frequency: 1.673948341954167e-5
allele num: 119478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.86C>G
  hgvsp: ENSP00000467134.1:p.Ser29Cys
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+271G>C
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.108C>G
  hgvsp: ENST00000221859.4:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.108C>G
  hgvsp: ENST00000592962.1:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.227C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+133C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.445C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.195C>G
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser29Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

19-36605570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605570
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605570
    reference: chr 19
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+130G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.105G>A
  hgvsp: ENST00000221859.4:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.83G>A
  hgvsp: ENSP00000467134.1:p.Cys28Tyr
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+274C>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.192G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.105G>A
  hgvsp: ENST00000592962.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.224G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.442G>A
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys28Tyr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-36605570-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605570
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605570
    reference: chr 19
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.224G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.105G>T
  hgvsp: ENST00000221859.4:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.105G>T
  hgvsp: ENST00000592962.1:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.192G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+130G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.442G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.83G>T
  hgvsp: ENSP00000467134.1:p.Cys28Phe
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+274C>A
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys28Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

19-36605575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605575
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605575
    reference: chr 19
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+125A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+279T>C
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.437A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.78A>G
  hgvsp: ENST00000586439.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.100A>G
  hgvsp: ENSP00000221859.3:p.Ile34Val
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.219A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.100A>G
  hgvsp: ENSP00000465755.1:p.Ile34Val
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.187A>G
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile34Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

19-36605579-GTTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605579
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605576
    reference: chr 19
allele count: 1
allele frequency: 8.316838270762986e-6
allele num: 120238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+118_59+120delGAA
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+285_106+287delTCT
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.430_432delGAA
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.212_214delGAA
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.180_182delGAA
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.71_73delGAA
  hgvsp: ENSP00000467134.1:p.Arg24del
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.93_95delGAA
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.93_95delGAA
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu31_Asn32delinsAsp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: GTTC
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-36605582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605582
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605582
    reference: chr 19
allele count: 693
allele frequency: 5.75973669775096e-3
allele num: 120318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.430G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.93G>A
  hgvsp: ENST00000592962.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+286C>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.93G>A
  hgvsp: ENST00000221859.4:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+118G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.71G>A
  hgvsp: ENSP00000467134.1:p.Arg24Lys
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.212G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.180G>A
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9758
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg24Lys
num of homozygotes: 21
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

19-36605588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605588
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605588
    reference: chr 19
allele count: 12
allele frequency: 9.956853634251576e-5
allele num: 120520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.87C>T
  hgvsp: ENST00000592962.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+292G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.206C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.174C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.424C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.65C>T
  hgvsp: ENSP00000467134.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.87C>T
  hgvsp: ENST00000221859.4:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+112C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr22Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

19-36605603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605603
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605603
    reference: chr 19
allele count: 3
allele frequency: 2.483361478096752e-5
allele num: 120804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.159G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+307C>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.409G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+97G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.50G>A
  hgvsp: ENSP00000467134.1:p.Cys17Tyr
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.72G>A
  hgvsp: ENST00000221859.4:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.191G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.72G>A
  hgvsp: ENST00000592962.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys17Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-36605604-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605604
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605604
    reference: chr 19
allele count: 5
allele frequency: 4.138113682259079e-5
allele num: 120828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+96T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.49T>C
  hgvsp: ENSP00000467134.1:p.Cys17Arg
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.71T>C
  hgvsp: ENSP00000221859.3:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+308A>G
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.190T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.71T>C
  hgvsp: ENSP00000465755.1:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.158T>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.408T>C
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu24Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

19-36605604-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605604
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605604
    reference: chr 19
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+308A>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+96T>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.71T>A
  hgvsp: ENSP00000221859.3:p.Leu24Gln
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.71T>A
  hgvsp: ENSP00000465755.1:p.Leu24Gln
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.408T>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.158T>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.49T>A
  hgvsp: ENSP00000467134.1:p.Cys17Ser
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.190T>A
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24716
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu24Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-36605608-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605608
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605608
    reference: chr 19
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.67A>G
  hgvsp: ENSP00000465755.1:p.Met23Val
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.154A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+92A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.45A>G
  hgvsp: ENST00000586439.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.186A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.404A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.67A>G
  hgvsp: ENSP00000221859.3:p.Met23Val
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+312T>C
  variant of: http://identifiers.org/hgnc/1989
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met23Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

19-36605621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605621
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605621
    reference: chr 19
allele count: 3
allele frequency: 2.479666732791113e-5
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.106+325G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-6C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+79C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-6C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-6C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.173C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-6C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.141C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24733
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: c.60-6C>T
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-36605626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605626
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605626
    reference: chr 19
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-11C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.136C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-329G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-11C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+74C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.168C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-11C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-11C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-36605631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605631
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605631
    reference: chr 19
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-16C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-324G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.163C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-16C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+69C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.131C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-16C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-16C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24751
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-36605632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605632
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605632
    reference: chr 19
allele count: 3
allele frequency: 2.477700693756194e-5
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+68C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-17C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-17C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-323G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-17C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-17C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.130C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.162C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

19-36605633-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605633
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605633
    reference: chr 19
allele count: 2
allele frequency: 1.651609493451368e-5
allele num: 121094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-18A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-18A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.161A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+67A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-18A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-322T>C
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.129A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-18A>G
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

19-36605639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605639
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605639
    reference: chr 19
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+61C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.123C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.155C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-24C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-24C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-24C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-24C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-316G>A
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24762
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

19-36605640-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605640
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605640
    reference: chr 19
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.122C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+60C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-25C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-25C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.154C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-25C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-25C>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-315G>T
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-36605647-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605647
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605647
    reference: chr 19
allele count: 79317
allele frequency: 6.539558736231119e-1
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-32A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+53A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.115A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-32A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.147A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-32A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-32A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-308T>C
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 653
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 524
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 764
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 899
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 583
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 2.25e1
  variant carriers: 391
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 528
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 548
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.25e1
  variant carriers: 681
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 938
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 3.25e1
  variant carriers: 886
genotype depth: GenotypeDepth
  all individuals: 42763
  bin: 9.75e1
  variant carriers: 42660
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 501
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 606
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.75e1
  variant carriers: 975
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 55538
  bin: 9.75e1
  variant carriers: 52288
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 28
num of homozygotes: 26274
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-36605651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605651
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605651
    reference: chr 19
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+49C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-36C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-304G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.111C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-36C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-36C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.143C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-36C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45447
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-36605654-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605654
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605654
    reference: chr 19
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-39G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.60-39G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.60-39G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.108G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+46G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.140G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.397-39G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-301C>A
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-36605659-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605659
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605659
    reference: chr 19
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-296C>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+41G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+41G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.135G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+41G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-44G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.103G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+41G>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/19-36605660-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605660
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605660
    reference: chr 19
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+40G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.134G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-295C>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.102G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+40G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+40G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+40G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-45G>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45444
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

19-36605662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605662
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605662
    reference: chr 19
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+38G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.100G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+38G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+38G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-47G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.132G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+38G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-293C>T
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45446
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-36605666-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605666
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605666
    reference: chr 19
allele count: 25
allele frequency: 2.060598067983251e-4
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.96G>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+34G>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+34G>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-289C>G
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-51G>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.128G>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+34G>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+34G>C
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-36605667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605667
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605667
    reference: chr 19
allele count: 576
allele frequency: 4.747226663589761e-3
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-52C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+33C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+33C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+33C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.95C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.127C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-288G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+33C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 9.75e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45478
  bin: 9.75e1
  variant carriers: 568
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 8
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/19-36605668-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605668
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605668
    reference: chr 19
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.126G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+32G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.94G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+32G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.38-53G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+32G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+32G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-287C>A
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-36605669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605669
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605669
    reference: chr 19
allele count: 3
allele frequency: 2.472432378974435e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.125G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+31G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.93G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+31G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+31G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.37+53G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+31G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-286C>T
  variant of: http://identifiers.org/hgnc/1989
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45351
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-36605674-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605674
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605672
    reference: chr 19
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+24_396+25delGT
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.86_87delGT
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.37+46_37+47delGT
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-279_107-278delCA
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+24_59+25delGT
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.118_119delGT
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+24_59+25delGT
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+24_59+25delGT
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: AAC
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-36605685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605685
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605685
    reference: chr 19
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+15G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.37+37G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.77G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+15G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-270C>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+15G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.109G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+15G>A
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5592
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

19-36605686-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605686
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605686
    reference: chr 19
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.76A>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.108A>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-269T>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+14A>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+14A>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+14A>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.37+36A>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+14A>T
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45342
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-36605691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605691
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605691
    reference: chr 19
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.103G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.396+9G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.59+9G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.59+9G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-264C>T
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.71G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.37+31G>A
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.59+9G>A
  variant of: http://identifiers.org/hgnc/9196
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-36605702-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605702
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605702
    reference: chr 19
allele count: 22
allele frequency: 1.813685078318219e-4
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.92A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.57A>G
  hgvsp: ENST00000221859.4:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.57A>G
  hgvsp: ENST00000585842.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.57A>G
  hgvsp: ENST00000592962.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.394A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.37+20A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.60A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-253T>C
  variant of: http://identifiers.org/hgnc/1989
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45340
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: c.57A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-36605729-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605729
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605729
    reference: chr 19
allele count: 18
allele frequency: 1.486964279813634e-4
allele num: 121052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.30C>G
  hgvsp: ENST00000586439.1:c.30C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.30C>G
  hgvsp: ENST00000585842.1:c.30C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.367C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.30C>G
  hgvsp: ENST00000221859.4:c.30C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.30C>G
  hgvsp: ENST00000592962.1:c.30C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.65C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.33C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-226G>C
  variant of: http://identifiers.org/hgnc/1989
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly10Gly
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/19-36605730-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605730
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605730
    reference: chr 19
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.29G>T
  hgvsp: ENSP00000467134.1:p.Gly10Val
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.29G>T
  hgvsp: ENSP00000465455.1:p.Gly10Val
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.366G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.64G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.32G>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.29G>T
  hgvsp: ENSP00000465755.1:p.Gly10Val
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-225C>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.29G>T
  hgvsp: ENSP00000221859.3:p.Gly10Val
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly10Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

19-36605731-CCGGCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605726
    reference: chr 19
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.360_364delAGCCG
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.23_27delAGCCG
  hgvsp: ENSP00000467134.1:p.Glu8GlyfsTer110
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-221_107-217delGCTCG
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.23_27delAGCCG
  hgvsp: ENSP00000465455.1:p.Glu8GlyfsTer99
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.23_27delAGCCG
  hgvsp: ENSP00000221859.3:p.Glu8GlyfsTer12
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.58_62delAGCCG
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.23_27delAGCCG
  hgvsp: ENSP00000465755.1:p.Glu8GlyfsTer12
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.26_30delAGCCG
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu8GlyfsTer12
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: CCGGCT
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

19-36605732-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605732
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605732
    reference: chr 19
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.27G>C
  hgvsp: ENST00000586439.1:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.27G>C
  hgvsp: ENST00000592962.1:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-223C>G
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.62G>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.27G>C
  hgvsp: ENST00000585842.1:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.30G>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.364G>C
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.27G>C
  hgvsp: ENST00000221859.4:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro9Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

19-36605738-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605738
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605738
    reference: chr 19
allele count: 2
allele frequency: 1.654451301225948e-5
allele num: 120886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.21C>G
  hgvsp: ENSP00000465755.1:p.Tyr7Ter
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.21C>G
  hgvsp: ENSP00000467134.1:p.Tyr7Ter
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-217G>C
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.21C>G
  hgvsp: ENSP00000465455.1:p.Tyr7Ter
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.24C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.56C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.358C>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.21C>G
  hgvsp: ENSP00000221859.3:p.Tyr7Ter
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45328
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr7Ter
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

19-36605739-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605739
    reference: chr 19
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.20A>T
  hgvsp: ENSP00000465455.1:p.Tyr7Phe
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.20A>T
  hgvsp: ENSP00000221859.3:p.Tyr7Phe
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.357A>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.20A>T
  hgvsp: ENSP00000465755.1:p.Tyr7Phe
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.20A>T
  hgvsp: ENSP00000467134.1:p.Tyr7Phe
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.55A>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.23A>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-216T>A
  variant of: http://identifiers.org/hgnc/1989
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr7Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

19-36605739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605739
    reference: chr 19
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.55A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-216T>C
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.23A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.20A>G
  hgvsp: ENSP00000465455.1:p.Tyr7Cys
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.20A>G
  hgvsp: ENSP00000467134.1:p.Tyr7Cys
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.20A>G
  hgvsp: ENSP00000221859.3:p.Tyr7Cys
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.20A>G
  hgvsp: ENSP00000465755.1:p.Tyr7Cys
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.357A>G
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr7Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-36605743-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605743
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605743
    reference: chr 19
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-212T>C
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.51A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.16A>G
  hgvsp: ENSP00000221859.3:p.Thr6Ala
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.16A>G
  hgvsp: ENSP00000465755.1:p.Thr6Ala
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.19A>G
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.16A>G
  hgvsp: ENSP00000465455.1:p.Thr6Ala
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.16A>G
  hgvsp: ENSP00000467134.1:p.Thr6Ala
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.353A>G
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr6Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-36605750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36605750
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 36605750
    reference: chr 19
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000467134
  ensembl transcript: ENST00000586439
  gene symbol: POLR2I
  hgvsc: ENST00000586439.1:c.9C>T
  hgvsp: ENST00000586439.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465755
  ensembl transcript: ENST00000592962
  gene symbol: POLR2I
  hgvsc: ENST00000592962.1:c.9C>T
  hgvsp: ENST00000592962.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000221859
  ensembl transcript: ENST00000221859
  gene symbol: POLR2I
  hgvsc: ENST00000221859.4:c.9C>T
  hgvsp: ENST00000221859.4:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105258
  ensembl protein: ENSP00000465455
  ensembl transcript: ENST00000585842
  gene symbol: POLR2I
  hgvsc: ENST00000585842.1:c.9C>T
  hgvsp: ENST00000585842.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589591
  gene symbol: POLR2I
  hgvsc: ENST00000589591.1:n.44C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105254
  ensembl transcript: ENST00000593075
  gene symbol: TBCB
  hgvsc: ENST00000593075.1:n.107-205G>A
  variant of: http://identifiers.org/hgnc/1989
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000589069
  gene symbol: POLR2I
  hgvsc: ENST00000589069.1:n.12C>T
  variant of: http://identifiers.org/hgnc/9196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105258
  ensembl transcript: ENST00000586789
  gene symbol: POLR2I
  hgvsc: ENST00000586789.1:n.346C>T
  variant of: http://identifiers.org/hgnc/9196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro3Pro
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3476
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.218e1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

DP
type: SiteQuality
SIO_000300: 1.770228e6

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3459
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5045
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8964
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.766226e6

VQSLOD
type: SiteQuality
SIO_000300: -3.823e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.708e0

QD
type: SiteQuality
SIO_000300: 7.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.863e1

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31646
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 3463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8810
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.735202492211838e-5
allele num: 10272
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.755098e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.029e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

FS
type: SiteQuality
SIO_000300: 1.484e0

VQSLOD
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.067e0

GenotypeQuality
all individuals: 3392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
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variant carriers: 0

GenotypeQuality
all individuals: 286
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GenotypeQuality
all individuals: 8637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
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variant carriers: 0

GenotypeQuality
all individuals: 560
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variant carriers: 0

GenotypeQuality
all individuals: 790
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variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
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variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.744896178677369e-4
allele num: 11462
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528584530724549e-4
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53158514848494e-5
allele num: 66202
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

QD
type: SiteQuality
SIO_000300: 1.088e1

FS
type: SiteQuality
SIO_000300: 1.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

DP
type: SiteQuality
SIO_000300: 1.744178e6

GenotypeQuality
all individuals: 1187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 3403
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1286
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variant carriers: 0

GenotypeQuality
all individuals: 644
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variant carriers: 0

GenotypeQuality
all individuals: 5043
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 923
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variant carriers: 0

GenotypeQuality
all individuals: 30305
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511304558094547e-5
allele num: 66168
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

VQSLOD
type: SiteQuality
SIO_000300: -8.476e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 1.737769e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.64e-1

GenotypeQuality
all individuals: 8146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
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variant carriers: 0

GenotypeQuality
all individuals: 3327
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variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 0

GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 711
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 896
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variant carriers: 0

GenotypeQuality
all individuals: 1228
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variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.774e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQ
type: SiteQuality
SIO_000300: 5.771e1

DP
type: SiteQuality
SIO_000300: 1.719015e6

FS
type: SiteQuality
SIO_000300: 3.823e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

GenotypeQuality
all individuals: 2247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 578
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variant carriers: 0

GenotypeQuality
all individuals: 3327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5043
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 509
bin: 4.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66102
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 5.054e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

QD
type: SiteQuality
SIO_000300: 1.5e1

DP
type: SiteQuality
SIO_000300: 1.718071e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 875
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 3322
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variant carriers: 0

GenotypeQuality
all individuals: 436
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variant carriers: 0

GenotypeQuality
all individuals: 1375
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variant carriers: 0

GenotypeQuality
all individuals: 29394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3330
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

FS
type: SiteQuality
SIO_000300: 3.405e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.716969e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.452e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

GenotypeQuality
all individuals: 1997
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26201
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GenotypeQuality
all individuals: 5044
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
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GenotypeQuality
all individuals: 723
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.477051460361613e-4
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

FS
type: SiteQuality
SIO_000300: 5.685e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 1.692064e6

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
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GenotypeQuality
all individuals: 2235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5041
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7791
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.572e0

MQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.571e-1

FS
type: SiteQuality
SIO_000300: 4.81e0

DP
type: SiteQuality
SIO_000300: 1.691263e6

QD
type: SiteQuality
SIO_000300: 1.079e1

MQ
type: SiteQuality
SIO_000300: 5.909e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3224
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.217730150998539e-4
allele num: 16424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.513e0

DP
type: SiteQuality
SIO_000300: 1.671805e6

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 9.09e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

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: 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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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515381118351265e-5
allele num: 65990
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

QD
type: SiteQuality
SIO_000300: 1.942e1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.662344e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.942e-1

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.673e-1

MQ
type: SiteQuality
SIO_000300: 5.458e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: -3.674e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.6552e6

QD
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65882
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 6.078e0

DP
type: SiteQuality
SIO_000300: 1.654691e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -9.373e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5040
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517404631118934e-5
allele num: 65902
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.576e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.64883e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-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: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518418415378542e-5
allele num: 65858
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Other
type: Population
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South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.792e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 2.346316283435007e-4
allele num: 8524
num of homozygotes: 0

South Asian
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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
allele num: 6542
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63788
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

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

Other
type: Population
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num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.698070658982711e-5
allele num: 63856
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.247507433968865e-4
allele num: 11434
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

FS
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -3.22e-1

DP
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SIO_000300: 1.900028e6

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12996
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.981514609421586e-4
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566023552994237e-5
allele num: 63856
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.683e0

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

ClippingRankSum
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SIO_000300: -3.22e-1

VQSLOD
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BaseQRankSum
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SIO_000300: -1.183e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10070
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13028
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.692338974567522e-5
allele num: 63934
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.38e-1

QD
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SIO_000300: 1.309e1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

FS
type: SiteQuality
SIO_000300: 1.438e0

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 1.915168e6

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
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
allele num: 8546
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562255897516013e-5
allele num: 64010
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
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SIO_000300: 1.927676e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.787e0

QD
type: SiteQuality
SIO_000300: 2.739e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-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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bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13100
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.933438985736926e-4
allele num: 10096
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.014e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 1.993e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.930426e6

QD
type: SiteQuality
SIO_000300: 1.246e1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55860349127182e-5
allele num: 64160
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.145e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
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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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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: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559575795383656e-5
allele num: 64120
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQRankSum
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MQ
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SIO_000300: 5.662e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.944497e6

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

East Asian
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.461988304093567e-4
allele num: 13680
num of homozygotes: 0

Latino
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African
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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: 64714
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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DP
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QD
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 120
bin: 4.25e1
variant carriers: 5

East Asian
type: Population
allele count: 246
allele frequency: 2.861130495464061e-2
allele num: 8598
num of homozygotes: 6

African
type: Population
allele count: 329
allele frequency: 3.207878315132606e-2
allele num: 10256
num of homozygotes: 4

Other
type: Population
allele count: 100
allele frequency: 1.138952164009112e-1
allele num: 878
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 5825
allele frequency: 8.929666421388276e-2
allele num: 65232
num of homozygotes: 260

Latino
type: Population
allele count: 369
allele frequency: 3.20201318986463e-2
allele num: 11524
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 848
allele frequency: 1.283681501665153e-1
allele num: 6606
num of homozygotes: 43

South Asian
type: Population
allele count: 1447
allele frequency: 9.982064017660044e-2
allele num: 14496
num of homozygotes: 87

FS
type: SiteQuality
SIO_000300: 1.428e0

DP
type: SiteQuality
SIO_000300: 2.220615e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

QD
type: SiteQuality
SIO_000300: 1.472e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

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

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3381
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 2.229518e6

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 1.313e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.176e0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 11857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24257
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3381
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 1.313e0

QD
type: SiteQuality
SIO_000300: 1.136e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.176e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.229518e6

GenotypeQuality
all individuals: 178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 888
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24264
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4197
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 6.903e0

DP
type: SiteQuality
SIO_000300: 2.233318e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24264
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12021
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.396315722144045e-5
allele num: 15634
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 6.903e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.075e1

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

DP
type: SiteQuality
SIO_000300: 2.233318e6

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12302
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24266
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3391
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5425
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.315523556902867e-5
allele num: 15834
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.237678e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

GenotypeQuality
all individuals: 2974
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4462
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24276
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510163399679845e-5
allele num: 66218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.133e0

DP
type: SiteQuality
SIO_000300: 2.241204e6

FS
type: SiteQuality
SIO_000300: 9.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

MQ
type: SiteQuality
SIO_000300: 5.566e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 2.748e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12219
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24740
bin: 9.75e1
variant carriers: 668

GenotypeQuality
all individuals: 4179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4432
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.26017278076875e-5
allele num: 15974
num of homozygotes: 0

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

African
type: Population
allele count: 660
allele frequency: 6.354708261120739e-2
allele num: 10386
num of homozygotes: 20

Other
type: Population
allele count: 4
allele frequency: 4.464285714285714e-3
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.056330374932077e-5
allele num: 66252
num of homozygotes: 1

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

Latino
type: Population
allele count: 22
allele frequency: 1.902784985296662e-3
allele num: 11562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.93e-2

QD
type: SiteQuality
SIO_000300: 1.368e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 2.278633e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.313e0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

GenotypeQuality
all individuals: 2982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
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GenotypeQuality
all individuals: 5438
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 24708
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 4457
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GenotypeQuality
all individuals: 12282
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.244245365186015e-4
allele num: 16074
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.35664757310823e-4
allele num: 66340
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.159e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

DP
type: SiteQuality
SIO_000300: 2.281721e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.698e0

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

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12355
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GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5498
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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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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009691205682297e-5
allele num: 66452
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 2.929e0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
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SIO_000300: -9.5e-2

BaseQRankSum
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SIO_000300: -4.119e0

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 2.286262e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.787037037037037e-4
allele num: 8640
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 2.286881e6

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.286881e6

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
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SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.229e0

DP
type: SiteQuality
SIO_000300: 2.288134e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

FS
type: SiteQuality
SIO_000300: 4.182e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.068e0

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 2.290738e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.125949522175937e-5
allele num: 16324
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.292076e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.963e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-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: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.127e0

VQSLOD
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ReadPosRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.884060757546626e-4
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.188e1

DP
type: SiteQuality
SIO_000300: 2.29355e6

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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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
all individuals: 5615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 1.878e0

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

QD
type: SiteQuality
SIO_000300: 3.233e1

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 2.295566e6

GenotypeQuality
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bin: 2.5e0
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: 24762
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.284e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

FS
type: SiteQuality
SIO_000300: 3.99e-1

DP
type: SiteQuality
SIO_000300: 2.29579e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
all individuals: 808
bin: 6.75e1
variant carriers: 95

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 125

GenotypeQuality
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bin: 3.75e1
variant carriers: 26

GenotypeQuality
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variant carriers: 66

GenotypeQuality
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variant carriers: 104

GenotypeQuality
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variant carriers: 131

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 40

GenotypeQuality
all individuals: 1774
bin: 6.25e1
variant carriers: 74

GenotypeQuality
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bin: 5.25e1
variant carriers: 28

European (Finnish)
type: Population
allele count: 4299
allele frequency: 6.499848805563955e-1
allele num: 6614
num of homozygotes: 1387

East Asian
type: Population
allele count: 6724
allele frequency: 7.78601204261232e-1
allele num: 8636
num of homozygotes: 2596

European (Non-Finnish)
type: Population
allele count: 40739
allele frequency: 6.109078367273491e-1
allele num: 66686
num of homozygotes: 12463

Other
type: Population
allele count: 547
allele frequency: 6.037527593818984e-1
allele num: 906
num of homozygotes: 166

Latino
type: Population
allele count: 8881
allele frequency: 7.673233108691896e-1
allele num: 11574
num of homozygotes: 3421

African
type: Population
allele count: 7987
allele frequency: 7.676855055747789e-1
allele num: 10404
num of homozygotes: 3067

South Asian
type: Population
allele count: 10140
allele frequency: 6.157396162254068e-1
allele num: 16468
num of homozygotes: 3174

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.79e-2

DP
type: SiteQuality
SIO_000300: 8.216282e6

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

QD
type: SiteQuality
SIO_000300: 2.441e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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bin: 8.25e1
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
all individuals: 5298
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variant carriers: 0

GenotypeQuality
all individuals: 1088
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

QD
type: SiteQuality
SIO_000300: 2.729e1

DP
type: SiteQuality
SIO_000300: 3.835326e6

VQSLOD
type: SiteQuality
SIO_000300: -1.458e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.492e0

MQ
type: SiteQuality
SIO_000300: 5.839e1

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 46
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 917
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GenotypeQuality
all individuals: 5266
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

DP
type: SiteQuality
SIO_000300: 3.835404e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.222e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.08e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 2.0506e1

DP
type: SiteQuality
SIO_000300: 3.835955e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.972e0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.232e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-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: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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QD
type: SiteQuality
SIO_000300: 2.773e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.969e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.52e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 22
allele frequency: 2.114571318723568e-3
allele num: 10404
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.551e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

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

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

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

GenotypeQuality
all individuals: 921
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 6
allele frequency: 6.63716814159292e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 228
allele frequency: 1.382153249272551e-2
allele num: 16496
num of homozygotes: 5

Latino
type: Population
allele count: 25
allele frequency: 2.159640635798203e-3
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 8.996581299106339e-4
allele num: 66692
num of homozygotes: 0

African
type: Population
allele count: 177
allele frequency: 1.701268742791234e-2
allele num: 10404
num of homozygotes: 2

East Asian
type: Population
allele count: 80
allele frequency: 9.250693802035153e-3
allele num: 8648
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

FS
type: SiteQuality
SIO_000300: 7.184e0

QD
type: SiteQuality
SIO_000300: 1.422e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 3.850478e6

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 1711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5585
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1674
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1096
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 3.792749e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.522e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 1.354e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 927
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
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variant carriers: 0

GenotypeQuality
all individuals: 5588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 1713
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 1096
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variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

DP
type: SiteQuality
SIO_000300: 3.792944e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.864e0

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.126e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.304e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

GenotypeQuality
all individuals: 2500
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

GenotypeQuality
all individuals: 45351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1097
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variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.448e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.508e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.601e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 3.792693e6

GenotypeQuality
all individuals: 1096
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 925
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 1676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45342
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.757e0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.272e1

DP
type: SiteQuality
SIO_000300: 3.792469e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.092e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

DP
type: SiteQuality
SIO_000300: 3.792358e6

FS
type: SiteQuality
SIO_000300: 8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.101e1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45341
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5633
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variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.792219e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.434e1

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 2498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 21
allele frequency: 2.429430819065248e-3
allele num: 8644
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

DP
type: SiteQuality
SIO_000300: 3.79285e6

QD
type: SiteQuality
SIO_000300: 1.253e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 920
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2408
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variant carriers: 0

GenotypeQuality
all individuals: 60
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GenotypeQuality
all individuals: 1641
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variant carriers: 0

GenotypeQuality
all individuals: 45331
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 17
allele frequency: 1.969872537659328e-3
allele num: 8630
num of homozygotes: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.79e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.167e0

FS
type: SiteQuality
SIO_000300: 3.351e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.782623e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45329
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1641
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.627e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

DP
type: SiteQuality
SIO_000300: 3.780085e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.176e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.771e0

MQ
type: SiteQuality
SIO_000300: 5.86e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

MQ
type: SiteQuality
SIO_000300: 5.219e1

DP
type: SiteQuality
SIO_000300: 3.779768e6

VQSLOD
type: SiteQuality
SIO_000300: -2.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e0

MQRankSum
type: SiteQuality
SIO_000300: -8.590999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

FS
type: SiteQuality
SIO_000300: 2.5758e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
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variant carriers: 0

GenotypeQuality
all individuals: 45329
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.485e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.51e0

VQSLOD
type: SiteQuality
SIO_000300: -1.606e0

DP
type: SiteQuality
SIO_000300: 3.779188e6

GenotypeQuality
all individuals: 2350
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 23
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

DP
type: SiteQuality
SIO_000300: 3.775321e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3162e1

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.996e1

DP
type: SiteQuality
SIO_000300: 3.77506e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 1.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

QD
type: SiteQuality
SIO_000300: 1.429e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.68e0

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 3.77506e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

FS
type: SiteQuality
SIO_000300: 1.491e0

MQ
type: SiteQuality
SIO_000300: 5.996e1

QD
type: SiteQuality
SIO_000300: 1.429e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.772642e6

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 6.41e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.927e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.684e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1