6-43495426-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495426
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495426
    reference: chr 6
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.177A>G
  hgvsp: ENSP00000387384.2:p.Met60Val
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.131A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1561T>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.90A>G
  hgvsp: ENSP00000426185.1:p.Met31Val
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2866A>G
  hgvsp: ENSP00000265351.7:p.Met956Val
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met956Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

6-43495427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495427
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495427
    reference: chr 6
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.130G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.89G>A
  hgvsp: ENST00000486936.2:c.89G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.176G>A
  hgvsp: ENST00000455285.2:c.176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2865G>A
  hgvsp: ENST00000265351.7:c.2865G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1560C>T
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu955Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

6-43495433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495433
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495433
    reference: chr 6
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2859T>C
  hgvsp: ENST00000265351.7:c.2859T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.83T>C
  hgvsp: ENST00000486936.2:c.83T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1554A>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.170T>C
  hgvsp: ENST00000455285.2:c.170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.124T>C
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser953Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

6-43495458-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495458
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495458
    reference: chr 6
allele count: 3
allele frequency: 2.485460058656858e-5
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.99A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1529T>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.145A>C
  hgvsp: ENSP00000387384.2:p.Glu49Ala
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2834A>C
  hgvsp: ENSP00000265351.7:p.Glu945Ala
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.58A>C
  hgvsp: ENSP00000426185.1:p.Glu20Ala
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu945Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

6-43495459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495459
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495459
    reference: chr 6
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.57G>A
  hgvsp: ENSP00000426185.1:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.144G>A
  hgvsp: ENSP00000387384.2:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.98G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2833G>A
  hgvsp: ENSP00000265351.7:p.Glu945Lys
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1528C>T
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu945Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-43495460-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495460
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495460
    reference: chr 6
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.97T>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.56T>G
  hgvsp: ENSP00000426185.1:p.Asp19Glu
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1527A>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.143T>G
  hgvsp: ENSP00000387384.2:p.Asp48Glu
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2832T>G
  hgvsp: ENSP00000265351.7:p.Asp944Glu
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp944Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

6-43495460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495460
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495460
    reference: chr 6
allele count: 2
allele frequency: 1.657028285472833e-5
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2832T>C
  hgvsp: ENST00000265351.7:c.2832T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.143T>C
  hgvsp: ENST00000455285.2:c.143T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.97T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.56T>C
  hgvsp: ENST00000486936.2:c.56T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1527A>G
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10456
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  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: 1671
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp944Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

6-43495460-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495460
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495457
    reference: chr 6
allele count: 2
allele frequency: 1.657028285472833e-5
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.53_55delAGA
  hgvsp: ENSP00000426185.1:p.Glu18del
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.140_142delAGA
  hgvsp: ENSP00000387384.2:p.Glu47del
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.94_96delAGA
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2829_2831delAGA
  hgvsp: ENSP00000265351.7:p.Glu943del
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1523_923-1521delTCT
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu943del
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: ATCT
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-43495462-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495462
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495462
    reference: chr 6
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1525C>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.95G>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2830G>T
  hgvsp: ENSP00000265351.7:p.Asp944Tyr
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.141G>T
  hgvsp: ENSP00000387384.2:p.Asp48Tyr
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.54G>T
  hgvsp: ENSP00000426185.1:p.Asp19Tyr
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp944Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-43495480-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495480
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495480
    reference: chr 6
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.47-11G>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.134-11G>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.88-11G>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1507C>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2823-11G>T
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

6-43495480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495480
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495480
    reference: chr 6
allele count: 4
allele frequency: 3.323805092069401e-5
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2823-11G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.134-11G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.88-11G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.47-11G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1507C>T
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18846
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21524
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

6-43495488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495488
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495488
    reference: chr 6
allele count: 6
allele frequency: 4.996252810392206e-5
allele num: 120090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.88-19G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.134-19G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2823-19G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1499C>T
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.47-19G>A
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10427
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

6-43495495-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495495
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495495
    reference: chr 6
allele count: 2
allele frequency: 1.666666666666667e-5
allele num: 120000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.47-26G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2823-26G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.134-26G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1492C>T
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.88-26G>A
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17740
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

6-43495500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495500
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495500
    reference: chr 6
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.134-31C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.47-31C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1487G>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.88-31C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2823-31C>T
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10407
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
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genotype quality: GenotypeQuality
  all individuals: 17901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

6-43495503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495503
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495503
    reference: chr 6
allele count: 3
allele frequency: 2.506098172219066e-5
allele num: 119708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.88-34C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.47-34C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.134-34C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2823-34C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1484G>A
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16108
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10403
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 671
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8944
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-43495519-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495519
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495519
    reference: chr 6
allele count: 1
allele frequency: 8.428292090890703e-6
allele num: 118648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.88-50T>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2823-50T>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1468A>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.47-50T>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.134-50T>G
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10234
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

6-43495848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495848
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495848
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 38562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.133+49T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2822+49T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.87+49T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1139A>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.46+49T>C
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27281
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9333
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9463
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

6-43495855-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495855
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495855
    reference: chr 6
allele count: 3
allele frequency: 7.764377038148972e-5
allele num: 38638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1132T>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2822+42A>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.133+42A>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.46+42A>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.87+42A>T
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9858
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-43495861-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495861
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495861
    reference: chr 6
allele count: 1
allele frequency: 2.572281098878485e-5
allele num: 38876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.133+36A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2822+36A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1126T>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.87+36A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.46+36A>C
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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genotype depth: GenotypeDepth
  all individuals: 578
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
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genotype depth: GenotypeDepth
  all individuals: 700
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9620
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1021
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

6-43495879-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495879
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495878
    reference: chr 6
allele count: 1
allele frequency: 2.488676521825693e-5
allele num: 40182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.133+17delC
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2822+17delC
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.87+17delC
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1105delG
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.46+17delC
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31661
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 357
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29746
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: TG
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-43495880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495880
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495880
    reference: chr 6
allele count: 3
allele frequency: 7.394626571358147e-5
allele num: 40570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.87+17C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.133+17C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2822+17C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.46+17C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1107G>A
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31899
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

6-43495881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495881
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495881
    reference: chr 6
allele count: 2
allele frequency: 4.911350130150779e-5
allele num: 40722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.46+16C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2822+16C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.133+16C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1106G>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.87+16C>T
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

6-43495906-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495906
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495906
    reference: chr 6
allele count: 1
allele frequency: 2.271591476988778e-5
allele num: 44022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.124G>C
  hgvsp: ENSP00000387384.2:p.Ser42Thr
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2813G>C
  hgvsp: ENSP00000265351.7:p.Ser938Thr
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.37G>C
  hgvsp: ENSP00000426185.1:p.Ser13Thr
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.78G>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1081C>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*785G>C
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser938Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-43495906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495906
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495906
    reference: chr 6
allele count: 1
allele frequency: 2.271591476988778e-5
allele num: 44022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.124G>A
  hgvsp: ENSP00000387384.2:p.Ser42Asn
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2813G>A
  hgvsp: ENSP00000265351.7:p.Ser938Asn
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1081C>T
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.78G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*785G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.37G>A
  hgvsp: ENSP00000426185.1:p.Ser13Asn
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser938Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

6-43495920-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495920
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495920
    reference: chr 6
allele count: 1
allele frequency: 2.227369921596579e-5
allele num: 44896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.64T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.110T>C
  hgvsp: ENST00000455285.2:c.110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*771T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.23T>C
  hgvsp: ENST00000486936.2:c.23T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2799T>C
  hgvsp: ENST00000265351.7:c.2799T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1067A>G
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val933Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

6-43495925-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495925
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495925
    reference: chr 6
allele count: 1
allele frequency: 2.244064449530991e-5
allele num: 44562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000426185
  ensembl transcript: ENST00000486936
  gene symbol: XPO5
  hgvsc: ENST00000486936.2:c.18C>A
  hgvsp: ENSP00000426185.1:p.Gln7Lys
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.105C>A
  hgvsp: ENSP00000387384.2:p.Gln36Lys
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2794C>A
  hgvsp: ENSP00000265351.7:p.Gln932Lys
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1062G>T
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.59C>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*766C>A
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5520
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln932Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum

6-43495963-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495963
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495963
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 40940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.87-20T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2776-20T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.41-20T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*748-20T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1024A>G
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25763
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-43495985-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495985
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495985
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 33890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*748-42C>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-1002G>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2776-42C>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.41-42C>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.87-42C>G
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23913
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6653
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

6-43495988-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495988
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43495988
    reference: chr 6
allele count: 1
allele frequency: 3.060350104051904e-5
allele num: 32676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-999T>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.41-45A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*748-45A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.87-45A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2776-45A>G
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

6-43496527-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496527
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496527
    reference: chr 6
allele count: 1
allele frequency: 1.170823088631308e-5
allele num: 85410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+39T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+39T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+39T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-460A>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+39T>C
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7930
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 712
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genotype quality: GenotypeQuality
  all individuals: 900
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

6-43496528-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496528
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496528
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 85554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+38A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+38A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-459T>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+38A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+38A>G
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 158
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 382
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 299
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genotype quality: GenotypeQuality
  all individuals: 1724
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genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

6-43496532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496532
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496532
    reference: chr 6
allele count: 1
allele frequency: 1.158211721102618e-5
allele num: 86340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+34T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+34T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+34T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-455A>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+34T>C
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16413
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12191
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-43496533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496533
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496533
    reference: chr 6
allele count: 2
allele frequency: 2.312299119014036e-5
allele num: 86494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+33G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+33G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+33G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+33G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-454C>T
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

6-43496536-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496536
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496536
    reference: chr 6
allele count: 2
allele frequency: 2.279514007613577e-5
allele num: 87738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+30A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+30A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+30A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+30A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-451T>G
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
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genotype quality: GenotypeQuality
  all individuals: 960
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/6-43496544-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496544
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496544
    reference: chr 6
allele count: 2
allele frequency: 2.147581822867451e-5
allele num: 93128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-443C>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+22G>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+22G>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+22G>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+22G>T
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24104
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

6-43496546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496546
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496546
    reference: chr 6
allele count: 1
allele frequency: 1.04982467927856e-5
allele num: 95254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+20C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+20C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+20C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-441G>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+20C>T
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26505
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

6-43496552-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496552
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496552
    reference: chr 6
allele count: 1
allele frequency: 9.882594774083884e-6
allele num: 101188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+14C>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+14C>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-435G>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+14C>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+14C>G
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9763
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-43496557-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496557
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496557
    reference: chr 6
allele count: 1
allele frequency: 9.508957437906509e-6
allele num: 105164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+9T>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-430A>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+9T>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+9T>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+9T>G
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

6-43496559-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496559
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496559
    reference: chr 6
allele count: 1
allele frequency: 9.392846408175533e-6
allele num: 106464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.86+7G>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.40+7G>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*747+7G>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2775+7G>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-428C>G
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34765
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2775+7G>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

6-43496592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496592
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496592
    reference: chr 6
allele count: 2
allele frequency: 1.697591118203269e-5
allele num: 117814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-395C>T
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2749G>A
  hgvsp: ENSP00000265351.7:p.Gly917Arg
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.14G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.60G>A
  hgvsp: ENSP00000387384.2:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*721G>A
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39560
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly917Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

6-43496593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496593
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496593
    reference: chr 6
allele count: 1
allele frequency: 8.475869200386499e-6
allele num: 117982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*720C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.59C>T
  hgvsp: ENST00000455285.2:c.59C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2748C>T
  hgvsp: ENST00000265351.7:c.2748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-394G>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.13C>T
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4412
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu916Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

6-43496596-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496596
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496596
    reference: chr 6
allele count: 1
allele frequency: 8.454228805248384e-6
allele num: 118284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-391G>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.56C>G
  hgvsp: ENSP00000387384.2:p.Ile19Met
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.10C>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*717C>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2745C>G
  hgvsp: ENSP00000265351.7:p.Ile915Met
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile915Met
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

6-43496599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496599
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496599
    reference: chr 6
allele count: 1
allele frequency: 8.44409166905916e-6
allele num: 118426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-388G>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2742C>T
  hgvsp: ENST00000265351.7:c.2742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*714C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.53C>T
  hgvsp: ENST00000455285.2:c.53C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124571
  ensembl transcript: ENST00000450462
  gene symbol: XPO5
  hgvsc: ENST00000450462.2:n.7C>T
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro914Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

6-43496606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496606
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496606
    reference: chr 6
allele count: 1
allele frequency: 8.424883736604435e-6
allele num: 118696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.46T>C
  hgvsp: ENSP00000387384.2:p.Val16Ala
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2735T>C
  hgvsp: ENSP00000265351.7:p.Val912Ala
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*707T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-381A>G
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val912Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

6-43496607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496607
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496607
    reference: chr 6
allele count: 1
allele frequency: 8.424174009738345e-6
allele num: 118706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.45G>A
  hgvsp: ENSP00000387384.2:p.Val16Ile
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-380C>T
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*706G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2734G>A
  hgvsp: ENSP00000265351.7:p.Val912Ile
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val912Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

6-43496610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496610
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496610
    reference: chr 6
allele count: 1
allele frequency: 8.421761832575375e-6
allele num: 118740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-377G>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2731C>T
  hgvsp: ENST00000265351.7:c.2731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.42C>T
  hgvsp: ENST00000455285.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*703C>T
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu911Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

6-43496617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496617
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496617
    reference: chr 6
allele count: 2
allele frequency: 1.683416662458125e-5
allele num: 118806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*696T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-370A>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2724T>C
  hgvsp: ENST00000265351.7:c.2724T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.35T>C
  hgvsp: ENST00000455285.2:c.35T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr908Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

6-43496618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496618
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496618
    reference: chr 6
allele count: 1
allele frequency: 8.418075291265404e-6
allele num: 118792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-369T>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2723A>G
  hgvsp: ENSP00000265351.7:p.Tyr908Cys
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*695A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.34A>G
  hgvsp: ENSP00000387384.2:p.Tyr12Cys
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr908Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

6-43496629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496629
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496629
    reference: chr 6
allele count: 1
allele frequency: 8.42715566641947e-6
allele num: 118664
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2712C>T
  hgvsp: ENST00000265351.7:c.2712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*684C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.23C>T
  hgvsp: ENST00000455285.2:c.23C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-358G>A
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro904Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

6-43496630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496630
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496630
    reference: chr 6
allele count: 1
allele frequency: 8.431845393682861e-6
allele num: 118598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-357G>A
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*683C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000387384
  ensembl transcript: ENST00000455285
  gene symbol: XPO5
  hgvsc: ENST00000455285.2:c.22C>T
  hgvsp: ENSP00000387384.2:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2711C>T
  hgvsp: ENSP00000265351.7:p.Pro904Leu
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro904Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/6-43496662-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496662
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496662
    reference: chr 6
allele count: 44631
allele frequency: 3.896066483928977e-1
allele num: 114554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*651T>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2679T>G
  hgvsp: ENST00000265351.7:c.2679T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-325A>C
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 1852
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 2.25e1
  variant carriers: 7278
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 1084
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 3.25e1
  variant carriers: 5173
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 668
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 2.75e1
  variant carriers: 7068
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 1.75e1
  variant carriers: 5007
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 1.25e1
  variant carriers: 1803
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.75e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 361
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.75e1
  variant carriers: 3283
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 664
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 455
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.75e1
  variant carriers: 417
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.25e1
  variant carriers: 626
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 5.25e1
  variant carriers: 669
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 257
genotype quality: GenotypeQuality
  all individuals: 12968
  bin: 6.25e1
  variant carriers: 769
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 7.75e1
  variant carriers: 700
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 2.75e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 320
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 2.25e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 277
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.25e1
  variant carriers: 431
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.25e1
  variant carriers: 512
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 785
genotype quality: GenotypeQuality
  all individuals: 29409
  bin: 9.75e1
  variant carriers: 28715
hgvs: c.2679T>G
num of homozygotes: 9077
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

6-43496675-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496675
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496675
    reference: chr 6
allele count: 1
allele frequency: 9.845232938211319e-6
allele num: 101572
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-12T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-312A>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-12T>C
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4757
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

6-43496691-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496691
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496691
    reference: chr 6
allele count: 1
allele frequency: 1.05804431089574e-5
allele num: 94514
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-28A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-296T>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-28A>G
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7516
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6352
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

6-43496693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496693
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496693
    reference: chr 6
allele count: 1
allele frequency: 1.09803232607168e-5
allele num: 91072
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-30G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-294C>T
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-30G>A
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

6-43496695-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496695
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496695
    reference: chr 6
allele count: 3
allele frequency: 3.278330237132554e-5
allele num: 91510
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-32A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-292T>C
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-32A>G
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

6-43496696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496696
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496696
    reference: chr 6
allele count: 1
allele frequency: 1.09208457102918e-5
allele num: 91568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-33T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-33T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-291A>G
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

6-43496703-C-CAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496703
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496705
    reference: chr 6
allele count: 2
allele frequency: 2.310909805190303e-5
allele num: 86546
alternate allele: CAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-42_*650-41dupAT
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-283_923-282dupAT
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-42_2678-41dupAT
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

6-43496704-ATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496704
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496702
    reference: chr 6
allele count: 1
allele frequency: 1.149372442646315e-5
allele num: 87004
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-43_2678-42delGA
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-43_*650-42delGA
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-278_923-277delTC
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: ATC
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

6-43496708-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496708
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496708
    reference: chr 6
allele count: 151
allele frequency: 1.790839441163215e-3
allele num: 84318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-45G>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-45G>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-279C>G
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 7.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 1.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21904
  bin: 1.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8805
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5536
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16582
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 9.75e1
  variant carriers: 159
num of homozygotes: 3
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

6-43496710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496710
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496710
    reference: chr 6
allele count: 1
allele frequency: 1.198638346837992e-5
allele num: 83428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-47G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-277C>T
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-47G>A
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8827
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

6-43496938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496938
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496938
    reference: chr 6
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-275C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-275C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-49G>A
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

6-43496951-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496951
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496951
    reference: chr 6
allele count: 37
allele frequency: 3.052251241523816e-4
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-288T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-36A>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-288T>C
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28963
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 261
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

6-43496959-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496959
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496959
    reference: chr 6
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-296A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-296A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-28T>C
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28910
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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genotype depth: GenotypeDepth
  all individuals: 2676
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12046
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

6-43496964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496964
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496964
    reference: chr 6
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-301G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-301G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-23C>T
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 80
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

6-43496969-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496969
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496969
    reference: chr 6
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-306A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-18T>G
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-306A>C
  variant of: http://identifiers.org/hgnc/17675
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28825
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

6-43496970-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496970
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496967
    reference: chr 6
allele count: 7
allele frequency: 5.78397673188789e-5
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-310_*650-308delGAG
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-310_2678-308delGAG
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-14_923-12delCCT
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28808
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: TCTC
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

6-43496973-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496973
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496970
    reference: chr 6
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-313_*650-311delAAG
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-313_2678-311delAAG
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923-13_923-11delCTT
  variant of: http://identifiers.org/hgnc/20194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: CCTT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

6-43496987-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496987
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496987
    reference: chr 6
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-324C>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.923G>T
  hgvsp: ENSP00000307212.3:p.Cys308Phe
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-324C>A
  variant of: http://identifiers.org/hgnc/17675
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 87
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
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genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43104
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys308Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

6-43496993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496993
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496993
    reference: chr 6
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-330T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-330T>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.929A>G
  hgvsp: ENSP00000307212.3:p.Lys310Arg
  variant of: http://identifiers.org/hgnc/20194
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys310Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

6-43496998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496998
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496998
    reference: chr 6
allele count: 2
allele frequency: 1.701953843011778e-5
allele num: 117512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-335A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.934T>C
  hgvsp: ENST00000304004.3:c.934T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-335A>G
  variant of: http://identifiers.org/hgnc/17675
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11548
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8511
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu312Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

6-43496998-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43496998
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43496998
    reference: chr 6
allele count: 5
allele frequency: 4.254884607529444e-5
allele num: 117512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.934T>G
  hgvsp: ENSP00000307212.3:p.Leu312Val
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-335A>C
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-335A>C
  variant of: http://identifiers.org/hgnc/17675
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11548
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 780
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genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 207
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu312Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

6-43497008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43497008
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43497008
    reference: chr 6
allele count: 220
allele frequency: 1.97479444185128e-3
allele num: 111404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-345G>A
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.944C>T
  hgvsp: ENSP00000307212.3:p.Ala315Val
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-345G>A
  variant of: http://identifiers.org/hgnc/17675
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12756
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 213
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Ala315Val
num of homozygotes: 3
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

6-43497009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43497009
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43497009
    reference: chr 6
allele count: 2
allele frequency: 1.798464111648652e-5
allele num: 111206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.945G>A
  hgvsp: ENST00000304004.3:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-346C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-346C>T
  variant of: http://identifiers.org/hgnc/17675
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9000
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 33380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala315Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

6-43497015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43497015
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43497015
    reference: chr 6
allele count: 1
allele frequency: 9.298000929800094e-6
allele num: 107550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-352A>G
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.951T>C
  hgvsp: ENST00000304004.3:c.951T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-352A>G
  variant of: http://identifiers.org/hgnc/17675
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala317Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

6-43497032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43497032
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43497032
    reference: chr 6
allele count: 8
allele frequency: 8.27660410933394e-5
allele num: 96658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000265351
  ensembl transcript: ENST00000265351
  gene symbol: XPO5
  hgvsc: ENST00000265351.7:c.2678-369C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124571
  ensembl protein: ENSP00000381816
  ensembl transcript: ENST00000398835
  gene symbol: XPO5
  hgvsc: ENST00000398835.3:c.*650-369C>T
  variant of: http://identifiers.org/hgnc/17675
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171453
  ensembl protein: ENSP00000307212
  ensembl transcript: ENST00000304004
  gene symbol: POLR1C
  hgvsc: ENST00000304004.3:c.968G>A
  hgvsp: ENSP00000307212.3:p.Ser323Asn
  variant of: http://identifiers.org/hgnc/20194
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser323Asn
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10456
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 2.75e1
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: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

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

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: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.576e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

FS
type: SiteQuality
SIO_000300: 1.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.058742e6

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

GenotypeQuality
all individuals: 10101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2427
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 7.25e1
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: 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: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
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: 16510
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.231e1

MQ
type: SiteQuality
SIO_000300: 5.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 2.058629e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.366e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.234e-1

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10456
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2427
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.657e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

FS
type: SiteQuality
SIO_000300: 1.3049e1

DP
type: SiteQuality
SIO_000300: 2.058603e6

GenotypeQuality
all individuals: 3780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10454
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1672
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3998
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.062474479379339e-4
allele num: 9796
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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: 6612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 2.057101e6

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10451
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2425
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10069
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 9.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

DP
type: SiteQuality
SIO_000300: 2.05665e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.717e0

QD
type: SiteQuality
SIO_000300: 1.391e1

GenotypeQuality
all individuals: 90
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10456
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 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: 6612
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: 66700
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 2.056783e6

QD
type: SiteQuality
SIO_000300: 1.329e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

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

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.042066571370227e-4
allele num: 9794
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 2.056783e6

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

FS
type: SiteQuality
SIO_000300: 7.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 7.4e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 2.056783e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

QD
type: SiteQuality
SIO_000300: 1.329e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.555e0

DP
type: SiteQuality
SIO_000300: 2.056271e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.702e0

GenotypeQuality
all individuals: 84
bin: 5.25e1
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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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.197e1

DP
type: SiteQuality
SIO_000300: 2.044629e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.339e0

FS
type: SiteQuality
SIO_000300: 7.132e0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.42600679281902e-4
allele num: 16488
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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.339e0

FS
type: SiteQuality
SIO_000300: 7.132e0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

DP
type: SiteQuality
SIO_000300: 2.044629e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523522316043426e-5
allele num: 66320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.820609297244811e-4
allele num: 16478
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

FS
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.588e1

DP
type: SiteQuality
SIO_000300: 2.029953e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.739130434782609e-4
allele num: 11500
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: 9752
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

FS
type: SiteQuality
SIO_000300: 3.078e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.486e0

QD
type: SiteQuality
SIO_000300: 1.363e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

DP
type: SiteQuality
SIO_000300: 2.011391e6

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.815e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.434e-1

DP
type: SiteQuality
SIO_000300: 1.992655e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 3.554e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.669e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3669
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

East Asian
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allele count: 3
allele frequency: 3.550295857988166e-4
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.498e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.978566e6

FS
type: SiteQuality
SIO_000300: 1.3532e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.797e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528911720637251e-5
allele num: 65406
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.433e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 19368
num of homozygotes: 0

Latino
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allele num: 1514
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African
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 19402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

African
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allele count: 3
allele frequency: 7.564296520423601e-4
allele num: 3966
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
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Latino
type: Population
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

DP
type: SiteQuality
SIO_000300: 8.57525e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

QD
type: SiteQuality
SIO_000300: 1.393e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 4.122011541632317e-4
allele num: 2426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.083e1

QD
type: SiteQuality
SIO_000300: 1.569e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.929e0

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

DP
type: SiteQuality
SIO_000300: 8.9527e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

GenotypeQuality
all individuals: 742
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4606
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20518
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.227495908346972e-3
allele num: 2444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

QD
type: SiteQuality
SIO_000300: 2.02e1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 8.97542e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 709
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 681
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variant carriers: 0

GenotypeQuality
all individuals: 4605
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.421307506053269e-4
allele num: 4130
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.896226415094339e-4
allele num: 1696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

FS
type: SiteQuality
SIO_000300: 8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

DP
type: SiteQuality
SIO_000300: 8.99702e5

QD
type: SiteQuality
SIO_000300: 1.391e1

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
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variant carriers: 1

GenotypeQuality
all individuals: 422
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.4259537930424e-5
allele num: 22594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

DP
type: SiteQuality
SIO_000300: 9.40705e5

FS
type: SiteQuality
SIO_000300: 4.419e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

GenotypeQuality
all individuals: 4603
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.134301270417423e-4
allele num: 8816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 4.419e0

QD
type: SiteQuality
SIO_000300: 1.364e1

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 9.40705e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34035
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
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variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
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variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2076
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.127904353710805e-4
allele num: 8866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23138
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 9.44782e5

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.825e0

GenotypeQuality
all individuals: 273
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4603
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.35691878703381e-5
allele num: 22952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.267e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

QD
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 9.39841e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

FS
type: SiteQuality
SIO_000300: 4.593e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

South 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: 1686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2496
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.55132e5

VQSLOD
type: SiteQuality
SIO_000300: -2.617e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
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variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.82478e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.004e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.338e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.084598698481562e-3
allele num: 922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.96e-2

DP
type: SiteQuality
SIO_000300: 7.7717e5

VQSLOD
type: SiteQuality
SIO_000300: -7.635e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

FS
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

QD
type: SiteQuality
SIO_000300: 9.25e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.700102006120367e-4
allele num: 5882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.284e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.376e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.082256e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

QD
type: SiteQuality
SIO_000300: 1.135e1

GenotypeQuality
all individuals: 1705
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3200
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14715
bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12486
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47986
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.585e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.087108e6

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 5.44e0

GenotypeQuality
all individuals: 3201
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.06347241137386e-5
allele num: 48462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -8.151e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.036e0

DP
type: SiteQuality
SIO_000300: 1.114407e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

QD
type: SiteQuality
SIO_000300: 7.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 2316
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1237
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.595150741745095e-4
allele num: 12538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7082
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.211e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.122601e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

FS
type: SiteQuality
SIO_000300: 9.83e-1

GenotypeQuality
all individuals: 704
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3204
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variant carriers: 2

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.054985604801103e-5
allele num: 49322
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

FS
type: SiteQuality
SIO_000300: 6.743e0

VQSLOD
type: SiteQuality
SIO_000300: -2.967e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 8.31e0

MQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 1.151969e6

GenotypeQuality
all individuals: 526
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26008
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3205
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variant carriers: 1

GenotypeQuality
all individuals: 1768
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.910073728845933e-5
allele num: 52354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.338329764453962e-4
allele num: 7472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13060
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.162e0

QD
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 3.877e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.256998e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
all individuals: 159
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variant carriers: 0

GenotypeQuality
all individuals: 761
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variant carriers: 0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
all individuals: 28944
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.480604086467279e-4
allele num: 6754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.155e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.287642e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

GenotypeQuality
all individuals: 2041
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 329
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variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7242
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.275902211874272e-5
allele num: 13744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.347e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.012e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -6.722e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.361386e6

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.698138839831544e-5
allele num: 58888
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9318
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.472e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.404204e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 37641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59560
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.247e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.738e1

DP
type: SiteQuality
SIO_000300: 1.419915e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.054554340521718e-5
allele num: 65476
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

FS
type: SiteQuality
SIO_000300: 5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.547206e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 1.08e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1373
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 395
bin: 5.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525646111128063e-5
allele num: 65546
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

FS
type: SiteQuality
SIO_000300: 7.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.548924e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522440777053773e-5
allele num: 65684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.551994e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 1.348e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521097624045511e-5
allele num: 65742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
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: 882
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.699e0

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 1.554592e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.541e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

QD
type: SiteQuality
SIO_000300: 8.68e0

GenotypeQuality
all individuals: 1386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51804960986125e-5
allele num: 65874
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 1.685e0

DP
type: SiteQuality
SIO_000300: 1.55702e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 318
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

QD
type: SiteQuality
SIO_000300: 8.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 1.557584e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.148e-1

GenotypeQuality
all individuals: 1380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45012
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.241418050181001e-5
allele num: 16022
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 1.201e0

VQSLOD
type: SiteQuality
SIO_000300: 8.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

QD
type: SiteQuality
SIO_000300: 1.246e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

DP
type: SiteQuality
SIO_000300: 1.55666e6

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035269835488375e-5
allele num: 65892
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.003e0

DP
type: SiteQuality
SIO_000300: 1.55582e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4453
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.873114463176575e-5
allele num: 11270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.079e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 1.555425e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

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

GenotypeQuality
all individuals: 522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43921
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039284971939306e-4
allele num: 9622
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

DP
type: SiteQuality
SIO_000300: 1.54856e6

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

FS
type: SiteQuality
SIO_000300: 1.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.766e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 619
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.25e-5
allele num: 16000
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.844000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.169e0

QD
type: SiteQuality
SIO_000300: 6.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
SIO_000300: 1.545878e6

FS
type: SiteQuality
SIO_000300: 1.186e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 846
bin: 4.75e1
variant carriers: 579

GenotypeQuality
all individuals: 979
bin: 3.75e1
variant carriers: 399

East Asian
type: Population
allele count: 501
allele frequency: 6.370803662258392e-2
allele num: 7864
num of homozygotes: 13

Latino
type: Population
allele count: 4217
allele frequency: 3.951461769115442e-1
allele num: 10672
num of homozygotes: 743

European (Finnish)
type: Population
allele count: 2470
allele frequency: 3.878768844221105e-1
allele num: 6368
num of homozygotes: 460

South Asian
type: Population
allele count: 6474
allele frequency: 4.153727704350058e-1
allele num: 15586
num of homozygotes: 1323

European (Non-Finnish)
type: Population
allele count: 24621
allele frequency: 3.867577756833177e-1
allele num: 63660
num of homozygotes: 4583

Other
type: Population
allele count: 331
allele frequency: 3.884976525821596e-1
allele num: 852
num of homozygotes: 62

African
type: Population
allele count: 6017
allele frequency: 6.299204355108877e-1
allele num: 9552
num of homozygotes: 1893

FS
type: SiteQuality
SIO_000300: 1.471e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 1.656212e6

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

QD
type: SiteQuality
SIO_000300: 1.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.61e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeQuality
all individuals: 1898
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.756604834176504e-5
allele num: 56928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.032e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 8.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.032e0

DP
type: SiteQuality
SIO_000300: 1.129646e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

GenotypeQuality
all individuals: 1896
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.873431001536213e-5
allele num: 53378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6808
num of homozygotes: 0

European (Finnish)
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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Latino
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African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.93753390684337e-5
allele num: 51612
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Other
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 1.797914419273643e-4
allele num: 5562
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South Asian
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allele frequency: 8.464533604198409e-5
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European (Non-Finnish)
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allele frequency: 1.929086770322929e-5
allele num: 51838
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Latino
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East Asian
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African
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Other
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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QD
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MQ
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 11814
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.325556733828208e-4
allele num: 7544
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African
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49290
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East Asian
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Latino
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allele frequency: 1.456452082726478e-4
allele num: 6866
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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African
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South Asian
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allele frequency: 9.132420091324201e-5
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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FS
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VQSLOD
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.019549236610388e-5
allele num: 49516
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South Asian
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Latino
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6228
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
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ReadPosRankSum
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FS
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 2

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 2.859593937660852e-4
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South Asian
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East Asian
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allele count: 149
allele frequency: 2.483333333333333e-2
allele num: 6000
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 666
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InbreedingCoeff
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QD
type: SiteQuality
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FS
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

African
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allele count: 0
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South Asian
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.09810750702866e-5
allele num: 47662
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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Other
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.500330072615976e-5
allele num: 66652
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South Asian
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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QD
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MQ
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ClippingRankSum
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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allele frequency: 3.470883146934053e-3
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European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 1.500870504892838e-5
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num of homozygotes: 0

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

South Asian
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 1.502133028901039e-5
allele num: 66572
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African
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Other
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MQRankSum
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QD
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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variant carriers: 0

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

East Asian
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Other
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European (Finnish)
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African
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allele frequency: 6.765899864682003e-4
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South Asian
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European (Non-Finnish)
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Latino
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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QD
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GenotypeQuality
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Latino
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

DP
type: SiteQuality
SIO_000300: 1.838469e6

FS
type: SiteQuality
SIO_000300: 6.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.637e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.423e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.734e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.82384e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.351e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.455e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: -5.489000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2083
bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16200
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.697e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.802763e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.68e0

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

GenotypeQuality
all individuals: 471
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.252344629235963e-5
allele num: 15994
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.192463629859289e-4
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64486
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Other
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allele frequency: 0.0e0
allele num: 874
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
SIO_000300: 1.753933e6

FS
type: SiteQuality
SIO_000300: 6.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.497e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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allele count: 4
allele frequency: 2.500937851694385e-4
allele num: 15994
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.910802775024777e-5
allele num: 10090
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 874
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64486
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6494
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Latino
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East Asian
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DP
type: SiteQuality
SIO_000300: 1.753933e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 6.115e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

Latino
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allele count: 10
allele frequency: 9.607993850883935e-4
allele num: 10408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 4.102395799146702e-4
allele num: 60940
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6184
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African
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allele count: 183
allele frequency: 1.864303178484107e-2
allele num: 9816
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South Asian
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allele count: 2
allele frequency: 1.297185108314956e-4
allele num: 15418
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7800
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Other
type: Population
allele count: 0
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allele num: 838
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.573878e6

QD
type: SiteQuality
SIO_000300: 1.377e1

FS
type: SiteQuality
SIO_000300: 1.428e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

GenotypeQuality
all individuals: 809
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

Other
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allele count: 0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.48760866744518e-5
allele num: 15414
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.64354743277891e-5
allele num: 60844
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East Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 4.051e0

QD
type: SiteQuality
SIO_000300: 1.337e1

MQ
type: SiteQuality
SIO_000300: 5.822e1

VQSLOD
type: SiteQuality
SIO_000300: -6.504e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

DP
type: SiteQuality
SIO_000300: 1.56273e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele num: 9644
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South Asian
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Other
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.704681054174764e-5
allele num: 58662
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East Asian
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allele count: 0
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FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 1.472371e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.436e1