16-72124599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124599
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124599
    reference: chr 16
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.50C>T
  hgvsp: ENSP00000455550.1:p.Ala17Val
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.50C>T
  hgvsp: ENSP00000457699.1:p.Ala17Val
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.50C>T
  hgvsp: ENSP00000454635.1:p.Ala17Val
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.50C>T
  hgvsp: ENSP00000392310.2:p.Ala17Val
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.50C>T
  hgvsp: ENSP00000408130.1:p.Ala17Val
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.50C>T
  hgvsp: ENSP00000268483.3:p.Ala17Val
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37625
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala17Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-72124603-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124603
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124603
    reference: chr 16
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.46C>A
  hgvsp: ENSP00000454635.1:p.Gln16Lys
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.46C>A
  hgvsp: ENSP00000457699.1:p.Gln16Lys
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.46C>A
  hgvsp: ENSP00000268483.3:p.Gln16Lys
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.46C>A
  hgvsp: ENSP00000455550.1:p.Gln16Lys
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.46C>A
  hgvsp: ENSP00000408130.1:p.Gln16Lys
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.46C>A
  hgvsp: ENSP00000392310.2:p.Gln16Lys
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln16Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/16-72124609-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124609
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124609
    reference: chr 16
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.40G>T
  hgvsp: ENSP00000457699.1:p.Val14Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.40G>T
  hgvsp: ENSP00000455550.1:p.Val14Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.40G>T
  hgvsp: ENSP00000268483.3:p.Val14Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.40G>T
  hgvsp: ENSP00000392310.2:p.Val14Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.40G>T
  hgvsp: ENSP00000408130.1:p.Val14Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.40G>T
  hgvsp: ENSP00000454635.1:p.Val14Leu
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val14Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-72124613-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124613
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124613
    reference: chr 16
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.36G>T
  hgvsp: ENSP00000455550.1:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.36G>T
  hgvsp: ENSP00000457699.1:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.36G>T
  hgvsp: ENSP00000268483.3:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.36G>T
  hgvsp: ENSP00000454635.1:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.36G>T
  hgvsp: ENSP00000408130.1:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.36G>T
  hgvsp: ENSP00000392310.2:p.Lys12Asn
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8346
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys12Asn
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

16-72124633-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124633
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124633
    reference: chr 16
allele count: 10
allele frequency: 8.239675686364985e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.16C>G
  hgvsp: ENSP00000268483.3:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.16C>G
  hgvsp: ENSP00000455550.1:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.16C>G
  hgvsp: ENSP00000457699.1:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.16C>G
  hgvsp: ENSP00000408130.1:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.16C>G
  hgvsp: ENSP00000454635.1:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.16C>G
  hgvsp: ENSP00000392310.2:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro6Ala
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

16-72124640-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124640
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124640
    reference: chr 16
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.9C>A
  hgvsp: ENSP00000392310.2:p.Phe3Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.9C>A
  hgvsp: ENSP00000455550.1:p.Phe3Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.9C>A
  hgvsp: ENSP00000457699.1:p.Phe3Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.9C>A
  hgvsp: ENSP00000454635.1:p.Phe3Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.9C>A
  hgvsp: ENSP00000408130.1:p.Phe3Leu
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.9C>A
  hgvsp: ENSP00000268483.3:p.Phe3Leu
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37625
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe3Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

16-72124659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124659
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124659
    reference: chr 16
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.-11G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.-11G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

16-72124672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124672
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124672
    reference: chr 16
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.-24G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.-24G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

16-72124692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124692
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124692
    reference: chr 16
allele count: 3
allele frequency: 2.476882430647292e-5
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.-37-7A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.-37-7A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.-37-7A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.-37-7A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.-37-7A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.-37-7A>G
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
hgvs: c.-37-7A>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

16-72124693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124693
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124693
    reference: chr 16
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.-37-8T>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.-37-8T>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.-37-8T>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.-37-8T>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.-37-8T>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.-37-8T>C
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1590
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 82
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
hgvs: c.-37-8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

16-72124694-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72124694
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72124694
    reference: chr 16
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000455550
  ensembl transcript: ENST00000565171
  gene symbol: TXNL4B
  hgvsc: ENST00000565171.1:c.-37-9T>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000392310
  ensembl transcript: ENST00000426362
  gene symbol: TXNL4B
  hgvsc: ENST00000426362.2:c.-37-9T>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.-37-9T>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000457699
  ensembl transcript: ENST00000569767
  gene symbol: TXNL4B
  hgvsc: ENST00000569767.1:c.-37-9T>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000408130
  ensembl transcript: ENST00000423037
  gene symbol: TXNL4B
  hgvsc: ENST00000423037.1:c.-37-9T>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000268483
  ensembl transcript: ENST00000268483
  gene symbol: TXNL4B
  hgvsc: ENST00000268483.3:c.-37-9T>A
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 37616
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

16-72130012-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130012
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130012
    reference: chr 16
allele count: 1
allele frequency: 9.310293460449874e-6
allele num: 107408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.-19-26T>A
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.-19-26T>A
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.-19-26T>A
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.-19-26T>A
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.-19-26T>A
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

16-72130019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130019
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130019
    reference: chr 16
allele count: 2
allele frequency: 1.859047052480898e-5
allele num: 107582
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.-19-19T>C
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.-19-19T>C
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.-19-19T>C
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.-19-19T>C
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.-19-19T>C
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14150
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

16-72130031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130031
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130031
    reference: chr 16
allele count: 3
allele frequency: 2.776081283659986e-5
allele num: 108066
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.-19-7C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.-19-7C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.-19-7C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.-19-7C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.-19-7C>T
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5918
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1762
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
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genotype quality: GenotypeQuality
  all individuals: 2562
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genotype quality: GenotypeQuality
  all individuals: 18617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 533
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
hgvs: c.-19-7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

16-72130035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130035
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130035
    reference: chr 16
allele count: 1
allele frequency: 9.225602893149067e-6
allele num: 108394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.-19-3C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.-19-3C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.-19-3C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.-19-3C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.-19-3C>T
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 252
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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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: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1771
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
hgvs: c.-19-3C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/16-72130036-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130036
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130036
    reference: chr 16
allele count: 1
allele frequency: 9.210986865132731e-6
allele num: 108566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.-19-2A>C
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.-19-2A>C
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.-19-2A>C
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.-19-2A>C
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.-19-2A>C
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14192
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
hgvs: c.-19-2A>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

16-72130046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130046
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130046
    reference: chr 16
allele count: 3
allele frequency: 2.743383872560674e-5
allele num: 109354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.-11C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14207
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

16-72130052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130052
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130052
    reference: chr 16
allele count: 12
allele frequency: 1.090611651367809e-4
allele num: 110030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.-5C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14216
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19280
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-72130068-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130068
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130068
    reference: chr 16
allele count: 1
allele frequency: 8.890627500488985e-6
allele num: 112478
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.12C>A
  hgvsp: ENST00000268482.3:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.12C>A
  hgvsp: ENST00000566794.1:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.12C>A
  hgvsp: ENST00000536867.1:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.12C>A
  hgvsp: ENST00000566489.1:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.12C>A
  hgvsp: ENST00000579387.1:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr4Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

16-72130072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130072
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130072
    reference: chr 16
allele count: 1
allele frequency: 8.821142514378463e-6
allele num: 113364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.16G>A
  hgvsp: ENSP00000462149.1:p.Glu6Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.16G>A
  hgvsp: ENSP00000457887.1:p.Glu6Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.16G>A
  hgvsp: ENSP00000455939.1:p.Glu6Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.16G>A
  hgvsp: ENSP00000437898.1:p.Glu6Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.16G>A
  hgvsp: ENSP00000268482.3:p.Glu6Lys
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu6Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

16-72130082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130082
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130082
    reference: chr 16
allele count: 1
allele frequency: 8.683872312341519e-6
allele num: 115156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.26C>T
  hgvsp: ENSP00000437898.1:p.Ser9Leu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.26C>T
  hgvsp: ENSP00000457887.1:p.Ser9Leu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.26C>T
  hgvsp: ENSP00000462149.1:p.Ser9Leu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.26C>T
  hgvsp: ENSP00000455939.1:p.Ser9Leu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.26C>T
  hgvsp: ENSP00000268482.3:p.Ser9Leu
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser9Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

16-72130085-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130085
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130084
    reference: chr 16
allele count: 1
allele frequency: 8.584870025067821e-6
allele num: 116484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.31delC
  hgvsp: ENSP00000457887.1:p.His11IlefsTer47
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.31delC
  hgvsp: ENSP00000455939.1:p.His11IlefsTer47
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.31delC
  hgvsp: ENSP00000268482.3:p.His11IlefsTer47
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.31delC
  hgvsp: ENSP00000462149.1:p.His11IlefsTer47
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.31delC
  hgvsp: ENSP00000437898.1:p.His11IlefsTer47
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15126
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His11IlefsTer47
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: TC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-72130087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130087
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130087
    reference: chr 16
allele count: 1
allele frequency: 8.553588230262596e-6
allele num: 116910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.31C>T
  hgvsp: ENSP00000268482.3:p.His11Tyr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.31C>T
  hgvsp: ENSP00000462149.1:p.His11Tyr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.31C>T
  hgvsp: ENSP00000437898.1:p.His11Tyr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.31C>T
  hgvsp: ENSP00000455939.1:p.His11Tyr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.31C>T
  hgvsp: ENSP00000457887.1:p.His11Tyr
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His11Tyr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

16-72130088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130088
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130088
    reference: chr 16
allele count: 1
allele frequency: 8.537522410996328e-6
allele num: 117130
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.32A>G
  hgvsp: ENSP00000268482.3:p.His11Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.32A>G
  hgvsp: ENSP00000455939.1:p.His11Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.32A>G
  hgvsp: ENSP00000437898.1:p.His11Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.32A>G
  hgvsp: ENSP00000457887.1:p.His11Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.32A>G
  hgvsp: ENSP00000462149.1:p.His11Arg
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His11Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

16-72130091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130091
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130091
    reference: chr 16
allele count: 1
allele frequency: 8.493290300662476e-6
allele num: 117740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.35G>A
  hgvsp: ENSP00000455939.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.35G>A
  hgvsp: ENSP00000457887.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.35G>A
  hgvsp: ENSP00000268482.3:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.35G>A
  hgvsp: ENSP00000437898.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.35G>A
  hgvsp: ENSP00000462149.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14226
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg12Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

16-72130095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130095
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130095
    reference: chr 16
allele count: 14
allele frequency: 1.183191913728407e-4
allele num: 118324
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.39G>A
  hgvsp: ENST00000268482.3:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.39G>A
  hgvsp: ENST00000536867.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.39G>A
  hgvsp: ENST00000579387.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.39G>A
  hgvsp: ENST00000566794.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.39G>A
  hgvsp: ENST00000566489.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14242
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu13Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-72130101-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130101
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130101
    reference: chr 16
allele count: 1
allele frequency: 8.408166010829718e-6
allele num: 118932
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.45C>A
  hgvsp: ENST00000268482.3:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.45C>A
  hgvsp: ENST00000566794.1:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.45C>A
  hgvsp: ENST00000579387.1:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.45C>A
  hgvsp: ENST00000536867.1:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.45C>A
  hgvsp: ENST00000566489.1:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly15Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

16-72130103-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130103
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130103
    reference: chr 16
allele count: 2323
allele frequency: 1.949316103046069e-2
allele num: 119170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.47C>G
  hgvsp: ENSP00000457887.1:p.Thr16Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.47C>G
  hgvsp: ENSP00000462149.1:p.Thr16Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.47C>G
  hgvsp: ENSP00000455939.1:p.Thr16Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.47C>G
  hgvsp: ENSP00000268482.3:p.Thr16Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.47C>G
  hgvsp: ENSP00000437898.1:p.Thr16Ser
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 15523
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 4.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 3.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 17075
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.75e1
  variant carriers: 765
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 153
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15735
  bin: 9.75e1
  variant carriers: 2279
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 7.75e1
  variant carriers: 3
hgvs: p.Thr16Ser
num of homozygotes: 33
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

16-72130111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130111
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130111
    reference: chr 16
allele count: 105
allele frequency: 8.767681491006864e-4
allele num: 119758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.55G>A
  hgvsp: ENSP00000462149.1:p.Asp19Asn
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.55G>A
  hgvsp: ENSP00000437898.1:p.Asp19Asn
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.55G>A
  hgvsp: ENSP00000268482.3:p.Asp19Asn
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.55G>A
  hgvsp: ENSP00000455939.1:p.Asp19Asn
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.55G>A
  hgvsp: ENSP00000457887.1:p.Asp19Asn
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9975
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17292
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 15696
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15051
  bin: 9.75e1
  variant carriers: 105
hgvs: p.Asp19Asn
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

16-72130116-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130116
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130116
    reference: chr 16
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.60T>G
  hgvsp: ENSP00000268482.3:p.Cys20Trp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.60T>G
  hgvsp: ENSP00000455939.1:p.Cys20Trp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.60T>G
  hgvsp: ENSP00000437898.1:p.Cys20Trp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.60T>G
  hgvsp: ENSP00000462149.1:p.Cys20Trp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.60T>G
  hgvsp: ENSP00000457887.1:p.Cys20Trp
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys20Trp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

16-72130125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130125
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130125
    reference: chr 16
allele count: 5187
allele frequency: 4.306494196569417e-2
allele num: 120446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.69T>C
  hgvsp: ENST00000536867.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.69T>C
  hgvsp: ENST00000566794.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.69T>C
  hgvsp: ENST00000268482.3:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.69T>C
  hgvsp: ENST00000566489.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.69T>C
  hgvsp: ENST00000579387.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14821
  bin: 2.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.25e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 276
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 3.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 4.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 4.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 9.75e1
  variant carriers: 1505
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 16578
  bin: 2.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.75e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 329
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6329
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18159
  bin: 9.75e1
  variant carriers: 5026
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly23Gly
num of homozygotes: 148
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

16-72130126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130126
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130126
    reference: chr 16
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.70G>A
  hgvsp: ENSP00000268482.3:p.Gly24Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.70G>A
  hgvsp: ENSP00000462149.1:p.Gly24Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.70G>A
  hgvsp: ENSP00000455939.1:p.Gly24Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.70G>A
  hgvsp: ENSP00000437898.1:p.Gly24Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.70G>A
  hgvsp: ENSP00000457887.1:p.Gly24Ser
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22649
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly24Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

16-72130133-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130133
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130133
    reference: chr 16
allele count: 2
allele frequency: 1.657247974014352e-5
allele num: 120682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.77T>C
  hgvsp: ENSP00000437898.1:p.Ile26Thr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.77T>C
  hgvsp: ENSP00000457887.1:p.Ile26Thr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.77T>C
  hgvsp: ENSP00000455939.1:p.Ile26Thr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.77T>C
  hgvsp: ENSP00000462149.1:p.Ile26Thr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.77T>C
  hgvsp: ENSP00000268482.3:p.Ile26Thr
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile26Thr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

16-72130140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130140
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130140
    reference: chr 16
allele count: 37
allele frequency: 3.061646669424907e-4
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.84G>A
  hgvsp: ENST00000268482.3:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.84G>A
  hgvsp: ENST00000579387.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.84G>A
  hgvsp: ENST00000566489.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.84G>A
  hgvsp: ENST00000536867.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.84G>A
  hgvsp: ENST00000566794.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16978
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16749
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys28Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

16-72130141-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130141
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130141
    reference: chr 16
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.85T>A
  hgvsp: ENSP00000457887.1:p.Ser29Thr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.85T>A
  hgvsp: ENSP00000455939.1:p.Ser29Thr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.85T>A
  hgvsp: ENSP00000268482.3:p.Ser29Thr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.85T>A
  hgvsp: ENSP00000462149.1:p.Ser29Thr
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.85T>A
  hgvsp: ENSP00000437898.1:p.Ser29Thr
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser29Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

16-72130145-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130145
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130145
    reference: chr 16
allele count: 5
allele frequency: 4.134760101218927e-5
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.89A>G
  hgvsp: ENSP00000455939.1:p.Lys30Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.89A>G
  hgvsp: ENSP00000462149.1:p.Lys30Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.89A>G
  hgvsp: ENSP00000457887.1:p.Lys30Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.89A>G
  hgvsp: ENSP00000437898.1:p.Lys30Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.89A>G
  hgvsp: ENSP00000268482.3:p.Lys30Arg
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys30Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

16-72130152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130152
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130152
    reference: chr 16
allele count: 2
allele frequency: 1.651609493451368e-5
allele num: 121094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.96G>A
  hgvsp: ENST00000579387.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.96G>A
  hgvsp: ENST00000566489.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.96G>A
  hgvsp: ENST00000536867.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.96G>A
  hgvsp: ENST00000566794.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.96G>A
  hgvsp: ENST00000268482.3:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala32Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

16-72130158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130158
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130158
    reference: chr 16
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.102C>T
  hgvsp: ENST00000566489.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.102C>T
  hgvsp: ENST00000268482.3:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.102C>T
  hgvsp: ENST00000536867.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.102C>T
  hgvsp: ENST00000579387.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.102C>T
  hgvsp: ENST00000566794.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser34Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

16-72130159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130159
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130159
    reference: chr 16
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.103G>A
  hgvsp: ENSP00000437898.1:p.Glu35Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.103G>A
  hgvsp: ENSP00000457887.1:p.Glu35Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.103G>A
  hgvsp: ENSP00000455939.1:p.Glu35Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.103G>A
  hgvsp: ENSP00000462149.1:p.Glu35Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.103G>A
  hgvsp: ENSP00000268482.3:p.Glu35Lys
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16746
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22955
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu35Lys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

16-72130160-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130160
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130160
    reference: chr 16
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.104A>G
  hgvsp: ENSP00000457887.1:p.Glu35Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.104A>G
  hgvsp: ENSP00000268482.3:p.Glu35Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.104A>G
  hgvsp: ENSP00000437898.1:p.Glu35Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.104A>G
  hgvsp: ENSP00000455939.1:p.Glu35Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.104A>G
  hgvsp: ENSP00000462149.1:p.Glu35Gly
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu35Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

16-72130176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130176
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130176
    reference: chr 16
allele count: 3
allele frequency: 2.472880741204788e-5
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.120G>A
  hgvsp: ENST00000566489.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.120G>A
  hgvsp: ENST00000579387.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.120G>A
  hgvsp: ENST00000268482.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.120G>A
  hgvsp: ENST00000536867.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.120G>A
  hgvsp: ENST00000566794.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys40Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

16-72130180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130180
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130180
    reference: chr 16
allele count: 7
allele frequency: 5.769864820309924e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.124C>T
  hgvsp: ENSP00000437898.1:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.124C>T
  hgvsp: ENSP00000462149.1:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.124C>T
  hgvsp: ENSP00000457887.1:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.124C>T
  hgvsp: ENSP00000455939.1:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.124C>T
  hgvsp: ENSP00000268482.3:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16760
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6573
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro42Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

16-72130185-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130185
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130185
    reference: chr 16
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.129T>C
  hgvsp: ENST00000566489.1:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.129T>C
  hgvsp: ENST00000566794.1:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.129T>C
  hgvsp: ENST00000536867.1:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.129T>C
  hgvsp: ENST00000579387.1:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.129T>C
  hgvsp: ENST00000268482.3:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala43Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD

16-72130186-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130186
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130186
    reference: chr 16
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.130C>G
  hgvsp: ENSP00000268482.3:p.Pro44Ala
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.130C>G
  hgvsp: ENSP00000462149.1:p.Pro44Ala
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.130C>G
  hgvsp: ENSP00000437898.1:p.Pro44Ala
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.130C>G
  hgvsp: ENSP00000455939.1:p.Pro44Ala
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.130C>G
  hgvsp: ENSP00000457887.1:p.Pro44Ala
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16762
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro44Ala
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: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

16-72130189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130189
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130189
    reference: chr 16
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.133C>T
  hgvsp: ENSP00000268482.3:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.133C>T
  hgvsp: ENSP00000455939.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.133C>T
  hgvsp: ENSP00000462149.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.133C>T
  hgvsp: ENSP00000437898.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.133C>T
  hgvsp: ENSP00000457887.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg45Cys
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

16-72130190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130190
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130190
    reference: chr 16
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.134G>A
  hgvsp: ENSP00000462149.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.134G>A
  hgvsp: ENSP00000455939.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.134G>A
  hgvsp: ENSP00000457887.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.134G>A
  hgvsp: ENSP00000268482.3:p.Arg45His
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.134G>A
  hgvsp: ENSP00000437898.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16787
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg45His
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

16-72130197-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130197
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130197
    reference: chr 16
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.141A>G
  hgvsp: ENST00000536867.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.141A>G
  hgvsp: ENST00000268482.3:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.141A>G
  hgvsp: ENST00000566794.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.141A>G
  hgvsp: ENST00000579387.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.141A>G
  hgvsp: ENST00000566489.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14795
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16809
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser47Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

16-72130203-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130203
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130203
    reference: chr 16
allele count: 52864
allele frequency: 4.36222005842259e-1
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.147C>G
  hgvsp: ENST00000566794.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.147C>G
  hgvsp: ENST00000268482.3:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.147C>G
  hgvsp: ENST00000536867.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.147C>G
  hgvsp: ENST00000579387.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.147C>G
  hgvsp: ENST00000566489.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 1897
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.75e1
  variant carriers: 1042
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 5.75e1
  variant carriers: 4079
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.25e1
  variant carriers: 714
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 4.75e1
  variant carriers: 4278
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.25e1
  variant carriers: 4298
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 2.25e1
  variant carriers: 423
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 2760
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 2019
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 3797
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 1144
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.75e1
  variant carriers: 2880
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 6.25e1
  variant carriers: 3452
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 8.75e1
  variant carriers: 872
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.75e1
  variant carriers: 1519
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 9.75e1
  variant carriers: 5212
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.25e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 14902
  bin: 6.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 160
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 196
genotype quality: GenotypeQuality
  all individuals: 39423
  bin: 9.75e1
  variant carriers: 39313
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 56
hgvs: p.Leu49Leu
num of homozygotes: 12326
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-72130203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130203
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130203
    reference: chr 16
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.147C>T
  hgvsp: ENST00000566489.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.147C>T
  hgvsp: ENST00000536867.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.147C>T
  hgvsp: ENST00000268482.3:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.147C>T
  hgvsp: ENST00000566794.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.147C>T
  hgvsp: ENST00000579387.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu49Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

16-72130203-CGGACT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130203
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130198
    reference: chr 16
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.153_157delGGACT
  hgvsp: ENSP00000268482.3:p.Asp52AlafsTer35
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.153_157delGGACT
  hgvsp: ENSP00000437898.1:p.Asp52AlafsTer35
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.153_157delGGACT
  hgvsp: ENSP00000457887.1:p.Asp52AlafsTer35
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.153_157delGGACT
  hgvsp: ENSP00000462149.1:p.Asp52AlafsTer35
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.153_157delGGACT
  hgvsp: ENSP00000455939.1:p.Asp52AlafsTer35
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp52AlafsTer35
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: CGGACT
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

16-72130204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130204
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130204
    reference: chr 16
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.148G>A
  hgvsp: ENSP00000462149.1:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.148G>A
  hgvsp: ENSP00000268482.3:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.148G>A
  hgvsp: ENSP00000437898.1:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.148G>A
  hgvsp: ENSP00000455939.1:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.148G>A
  hgvsp: ENSP00000457887.1:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31072
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly50Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

16-72130205-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130205
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130205
    reference: chr 16
allele count: 4
allele frequency: 3.296467834715103e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.149G>A
  hgvsp: ENSP00000455939.1:p.Gly50Glu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.149G>A
  hgvsp: ENSP00000462149.1:p.Gly50Glu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.149G>A
  hgvsp: ENSP00000268482.3:p.Gly50Glu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.149G>A
  hgvsp: ENSP00000457887.1:p.Gly50Glu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.149G>A
  hgvsp: ENSP00000437898.1:p.Gly50Glu
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly50Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

16-72130221-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130221
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130221
    reference: chr 16
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.165T>G
  hgvsp: ENST00000566489.1:c.165T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.165T>G
  hgvsp: ENST00000268482.3:c.165T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.165T>G
  hgvsp: ENST00000579387.1:c.165T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.165T>G
  hgvsp: ENST00000566794.1:c.165T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.165T>G
  hgvsp: ENST00000536867.1:c.165T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala55Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

16-72130225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130225
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130225
    reference: chr 16
allele count: 7
allele frequency: 5.769579480078466e-5
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.169C>T
  hgvsp: ENST00000579387.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.169C>T
  hgvsp: ENST00000536867.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.169C>T
  hgvsp: ENST00000566489.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.169C>T
  hgvsp: ENST00000566794.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.169C>T
  hgvsp: ENST00000268482.3:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu57Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

16-72130231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130231
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130231
    reference: chr 16
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.175C>T
  hgvsp: ENSP00000268482.3:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.175C>T
  hgvsp: ENSP00000455939.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.175C>T
  hgvsp: ENSP00000462149.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.175C>T
  hgvsp: ENSP00000457887.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.175C>T
  hgvsp: ENSP00000437898.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg59Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

16-72130232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130232
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130232
    reference: chr 16
allele count: 4
allele frequency: 3.297011259293451e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.176G>A
  hgvsp: ENSP00000437898.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.176G>A
  hgvsp: ENSP00000462149.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.176G>A
  hgvsp: ENSP00000457887.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.176G>A
  hgvsp: ENSP00000455939.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.176G>A
  hgvsp: ENSP00000268482.3:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31117
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg59Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-72130238-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130238
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130238
    reference: chr 16
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.182A>C
  hgvsp: ENSP00000455939.1:p.Glu61Ala
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.182A>C
  hgvsp: ENSP00000268482.3:p.Glu61Ala
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.182A>C
  hgvsp: ENSP00000462149.1:p.Glu61Ala
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.182A>C
  hgvsp: ENSP00000437898.1:p.Glu61Ala
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.182A>C
  hgvsp: ENSP00000457887.1:p.Glu61Ala
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu61Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

16-72130241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130241
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130241
    reference: chr 16
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.185G>A
  hgvsp: ENSP00000462149.1:p.Arg62Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.185G>A
  hgvsp: ENSP00000455939.1:p.Arg62Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.185G>A
  hgvsp: ENSP00000437898.1:p.Arg62Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.185G>A
  hgvsp: ENSP00000457887.1:p.Arg62Gln
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.185G>A
  hgvsp: ENSP00000268482.3:p.Arg62Gln
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg62Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-72130254-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130254
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130254
    reference: chr 16
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.198C>A
  hgvsp: ENSP00000462149.1:p.Asp66Glu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.198C>A
  hgvsp: ENSP00000455939.1:p.Asp66Glu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.198C>A
  hgvsp: ENSP00000437898.1:p.Asp66Glu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.198C>A
  hgvsp: ENSP00000268482.3:p.Asp66Glu
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.198C>A
  hgvsp: ENSP00000457887.1:p.Asp66Glu
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31064
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp66Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

16-72130254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130254
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130254
    reference: chr 16
allele count: 29
allele frequency: 2.391397565722202e-4
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.198C>T
  hgvsp: ENST00000268482.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.198C>T
  hgvsp: ENST00000566794.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.198C>T
  hgvsp: ENST00000536867.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.198C>T
  hgvsp: ENST00000579387.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.198C>T
  hgvsp: ENST00000566489.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31064
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 42413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp66Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

16-72130255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130255
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130255
    reference: chr 16
allele count: 4
allele frequency: 3.298370604921169e-5
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.199G>A
  hgvsp: ENSP00000462149.1:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.199G>A
  hgvsp: ENSP00000457887.1:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.199G>A
  hgvsp: ENSP00000268482.3:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.199G>A
  hgvsp: ENSP00000437898.1:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.199G>A
  hgvsp: ENSP00000455939.1:p.Asp67Asn
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp67Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

16-72130260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130260
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130260
    reference: chr 16
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.204G>A
  hgvsp: ENST00000579387.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.204G>A
  hgvsp: ENST00000536867.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.204G>A
  hgvsp: ENST00000566794.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.204G>A
  hgvsp: ENST00000566489.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.204G>A
  hgvsp: ENST00000268482.3:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31059
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly68Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-72130275-GTCCAAAGTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130275
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130266
    reference: chr 16
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.223_231delAAAGTCTCC
  hgvsp: ENSP00000462149.1:p.Lys75_Ser77del
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.223_231delAAAGTCTCC
  hgvsp: ENSP00000455939.1:p.Lys75_Ser77del
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.223_231delAAAGTCTCC
  hgvsp: ENSP00000437898.1:p.Lys75_Ser77del
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.223_231delAAAGTCTCC
  hgvsp: ENSP00000268482.3:p.Lys75_Ser77del
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.223_231delAAAGTCTCC
  hgvsp: ENSP00000457887.1:p.Lys75_Ser77del
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys75_Ser77del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: GTCCAAAGTC
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

16-72130283-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130283
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130283
    reference: chr 16
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.227T>G
  hgvsp: ENSP00000455939.1:p.Val76Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.227T>G
  hgvsp: ENSP00000462149.1:p.Val76Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.227T>G
  hgvsp: ENSP00000437898.1:p.Val76Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.227T>G
  hgvsp: ENSP00000457887.1:p.Val76Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.227T>G
  hgvsp: ENSP00000268482.3:p.Val76Gly
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val76Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

16-72130300-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130300
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130300
    reference: chr 16
allele count: 7
allele frequency: 5.782352260899734e-5
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.244T>G
  hgvsp: ENSP00000437898.1:p.Trp82Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.244T>G
  hgvsp: ENSP00000268482.3:p.Trp82Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.244T>G
  hgvsp: ENSP00000462149.1:p.Trp82Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.244T>G
  hgvsp: ENSP00000457887.1:p.Trp82Gly
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.244T>G
  hgvsp: ENSP00000455939.1:p.Trp82Gly
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp82Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-72130309-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130309
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130309
    reference: chr 16
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.253A>C
  hgvsp: ENSP00000268482.3:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.253A>C
  hgvsp: ENSP00000437898.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.253A>C
  hgvsp: ENSP00000455939.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.253A>C
  hgvsp: ENSP00000457887.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.253A>C
  hgvsp: ENSP00000462149.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser85Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-72130311-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130311
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130311
    reference: chr 16
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.255C>G
  hgvsp: ENSP00000457887.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.255C>G
  hgvsp: ENSP00000455939.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.255C>G
  hgvsp: ENSP00000268482.3:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.255C>G
  hgvsp: ENSP00000437898.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.255C>G
  hgvsp: ENSP00000462149.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser85Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

16-72130339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130339
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130339
    reference: chr 16
allele count: 6
allele frequency: 5.007427684398525e-5
allele num: 119822
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.283G>A
  hgvsp: ENSP00000268482.3:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.283G>A
  hgvsp: ENSP00000462149.1:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.283G>A
  hgvsp: ENSP00000457887.1:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.283G>A
  hgvsp: ENSP00000455939.1:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.283G>A
  hgvsp: ENSP00000437898.1:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 41558
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu95Lys
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: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

16-72130341-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130341
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130341
    reference: chr 16
allele count: 3
allele frequency: 2.504926355165158e-5
allele num: 119764
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.285G>C
  hgvsp: ENSP00000268482.3:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.285G>C
  hgvsp: ENSP00000457887.1:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.285G>C
  hgvsp: ENSP00000455939.1:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.285G>C
  hgvsp: ENSP00000437898.1:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.285G>C
  hgvsp: ENSP00000462149.1:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu95Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

16-72130342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130342
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130342
    reference: chr 16
allele count: 2
allele frequency: 1.671095068598453e-5
allele num: 119682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.286G>A
  hgvsp: ENSP00000455939.1:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.286G>A
  hgvsp: ENSP00000462149.1:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.286G>A
  hgvsp: ENSP00000437898.1:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.286G>A
  hgvsp: ENSP00000457887.1:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.286G>A
  hgvsp: ENSP00000268482.3:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly96Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

16-72130344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130344
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130344
    reference: chr 16
allele count: 3
allele frequency: 2.513783915134655e-5
allele num: 119342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.288C>T
  hgvsp: ENST00000268482.3:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.288C>T
  hgvsp: ENST00000579387.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.288C>T
  hgvsp: ENST00000536867.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.288C>T
  hgvsp: ENST00000566489.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.288C>T
  hgvsp: ENST00000566794.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly96Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

16-72130345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130345
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130345
    reference: chr 16
allele count: 5
allele frequency: 4.193083090134514e-5
allele num: 119244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.289G>A
  hgvsp: ENSP00000268482.3:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.289G>A
  hgvsp: ENSP00000455939.1:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.289G>A
  hgvsp: ENSP00000457887.1:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.289G>A
  hgvsp: ENSP00000437898.1:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.289G>A
  hgvsp: ENSP00000462149.1:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly97Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

16-72130346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130346
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130346
    reference: chr 16
allele count: 1
allele frequency: 8.391092016715055e-6
allele num: 119174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.290G>A
  hgvsp: ENSP00000268482.3:p.Gly97Asp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.290G>A
  hgvsp: ENSP00000455939.1:p.Gly97Asp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.290G>A
  hgvsp: ENSP00000437898.1:p.Gly97Asp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.290G>A
  hgvsp: ENSP00000462149.1:p.Gly97Asp
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.290G>A
  hgvsp: ENSP00000457887.1:p.Gly97Asp
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41605
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly97Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/16-72130351-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72130351
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72130351
    reference: chr 16
allele count: 2
allele frequency: 1.691703884152118e-5
allele num: 118224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000455939
  ensembl transcript: ENST00000566794
  gene symbol: DHX38
  hgvsc: ENST00000566794.1:c.295C>A
  hgvsp: ENSP00000455939.1:p.Gln99Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000268482
  ensembl transcript: ENST00000268482
  gene symbol: DHX38
  hgvsc: ENST00000268482.3:c.295C>A
  hgvsp: ENSP00000268482.3:p.Gln99Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000457887
  ensembl transcript: ENST00000566489
  gene symbol: DHX38
  hgvsc: ENST00000566489.1:c.295C>A
  hgvsp: ENSP00000457887.1:p.Gln99Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000462149
  ensembl transcript: ENST00000579387
  gene symbol: DHX38
  hgvsc: ENST00000579387.1:c.295C>A
  hgvsp: ENSP00000462149.1:p.Gln99Lys
  variant of: http://identifiers.org/hgnc/17211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140829
  ensembl protein: ENSP00000437898
  ensembl transcript: ENST00000536867
  gene symbol: DHX38
  hgvsc: ENST00000536867.1:c.295C>A
  hgvsp: ENSP00000437898.1:p.Gln99Lys
  variant of: http://identifiers.org/hgnc/17211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln99Lys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2740
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2719
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

FS
type: SiteQuality
SIO_000300: 8.143000000000001e0

DP
type: SiteQuality
SIO_000300: 3.04421e6

QD
type: SiteQuality
SIO_000300: 1.469e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 1616
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2740
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37625
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2718
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
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QD
type: SiteQuality
SIO_000300: 1.322e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.539e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 1.731e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.707e0

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 3.044088e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

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

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.494e0

DP
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SIO_000300: 3.044147e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

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

Latino
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allele count: 8
allele frequency: 6.91085003455425e-4
allele num: 11576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.043842e6

QD
type: SiteQuality
SIO_000300: 1.232e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -4.69e-2

FS
type: SiteQuality
SIO_000300: 8.256e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.825e0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

FS
type: SiteQuality
SIO_000300: 2.3412e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.44e0

DP
type: SiteQuality
SIO_000300: 3.041211e6

VQSLOD
type: SiteQuality
SIO_000300: -3.627e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.036165e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.909e1

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.505857614899369e-5
allele num: 66580
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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allele num: 16410
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.933e0

InbreedingCoeff
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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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

Other
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allele num: 902
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BaseQRankSum
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

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: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61380
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.513775355737209e-4
allele num: 6606
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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.222e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 6.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: -2.053e-1

DP
type: SiteQuality
SIO_000300: 1.72844e6

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeQuality
all individuals: 5839
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.255526255819253e-5
allele num: 61434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 1.688e1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.697e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

DP
type: SiteQuality
SIO_000300: 1.741657e6

GenotypeQuality
all individuals: 4047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.870920603994155e-5
allele num: 61590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3029e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

QD
type: SiteQuality
SIO_000300: 9.76e0

DP
type: SiteQuality
SIO_000300: 1.759786e6

VQSLOD
type: SiteQuality
SIO_000300: -1.704e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

GenotypeQuality
all individuals: 18745
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variant carriers: 0

GenotypeQuality
all individuals: 1548
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14190
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620745542949757e-5
allele num: 61700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

DP
type: SiteQuality
SIO_000300: 1.764591e6

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.619380748801658e-5
allele num: 61752
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

QD
type: SiteQuality
SIO_000300: 1.536e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.718e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.766031e6

GenotypeQuality
all individuals: 517
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3633
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variant carriers: 0

GenotypeQuality
all individuals: 2618
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variant carriers: 0

GenotypeQuality
all individuals: 513
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variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.227055634439137e-5
allele num: 61976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10818
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.775632e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.454e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 8.080000000000001e-1

GenotypeQuality
all individuals: 49
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variant carriers: 1

GenotypeQuality
all individuals: 500
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.644441586832123e-5
allele num: 62212
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.472271914132379e-4
allele num: 11180
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.78251e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

FS
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 3686
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GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14214
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587906504065041e-5
allele num: 62976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12674
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
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MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

FS
type: SiteQuality
SIO_000300: 3.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.804833e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.254e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 51
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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: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580378026423921e-5
allele num: 63276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13182
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
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MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.601e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.812288e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 259
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GenotypeQuality
all individuals: 2970
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2704
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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: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564064064064064e-5
allele num: 63936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.831804e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.119e0

MQ
type: SiteQuality
SIO_000300: 5.817e1

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 4.859e0

QD
type: SiteQuality
SIO_000300: 7.54e0

GenotypeQuality
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GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 1801
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 274
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GenotypeQuality
all individuals: 6486
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553663538624075e-5
allele num: 64364
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14886
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

MQ
type: SiteQuality
SIO_000300: 6.049e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

DP
type: SiteQuality
SIO_000300: 1.844156e6

QD
type: SiteQuality
SIO_000300: 2.098e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14222
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GenotypeQuality
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GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 6505
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64506
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
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15112
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.199e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 4.288e0

QD
type: SiteQuality
SIO_000300: 1.068e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

VQSLOD
type: SiteQuality
SIO_000300: 7.99e-1

DP
type: SiteQuality
SIO_000300: 1.849394e6

GenotypeQuality
all individuals: 3816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14222
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548610896026264e-5
allele num: 64574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 1.374e0

QD
type: SiteQuality
SIO_000300: 1.115e1

DP
type: SiteQuality
SIO_000300: 1.851155e6

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

GenotypeQuality
all individuals: 1819
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.425083526085839e-5
allele num: 15564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64788
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.85852e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.276e0

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

FS
type: SiteQuality
SIO_000300: 3.013e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65046
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: 14
allele frequency: 1.627150162715016e-3
allele num: 8604
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.196e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.022e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 1.094e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.86578e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

GenotypeQuality
all individuals: 1261
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3270
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.22975330176925e-5
allele num: 16052
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.872684e6

MQRankSum
type: SiteQuality
SIO_000300: -1.7e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.261e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.282e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.475e0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2710
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6551
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2519
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22644
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1565
allele frequency: 2.391503667481663e-2
allele num: 65440
num of homozygotes: 21

Other
type: Population
allele count: 28
allele frequency: 3.125e-2
allele num: 896
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 206
allele frequency: 3.115547489413188e-2
allele num: 6612
num of homozygotes: 1

African
type: Population
allele count: 49
allele frequency: 4.940512200040331e-3
allele num: 9918
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 62
allele frequency: 5.367965367965368e-3
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 412
allele frequency: 2.551715595193856e-2
allele num: 16146
num of homozygotes: 10

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

DP
type: SiteQuality
SIO_000300: 1.99223e6

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3876
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.992015968063872e-4
allele num: 10020
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 95
allele frequency: 1.446142604883395e-3
allele num: 65692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.461405330564209e-4
allele num: 11556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.124e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.926511e6

GenotypeQuality
all individuals: 2670
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3893
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23163
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.073e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

DP
type: SiteQuality
SIO_000300: 1.928949e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 7.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2861
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22306
bin: 6.25e1
variant carriers: 1

Latino
type: Population
allele count: 348
allele frequency: 3.008818952100986e-2
allele num: 11566
num of homozygotes: 9

East Asian
type: Population
allele count: 469
allele frequency: 5.435790449698655e-2
allele num: 8628
num of homozygotes: 14

European (Non-Finnish)
type: Population
allele count: 3314
allele frequency: 5.013919147906076e-2
allele num: 66096
num of homozygotes: 101

African
type: Population
allele count: 328
allele frequency: 3.224537947306331e-2
allele num: 10172
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 212
allele frequency: 3.205322044148776e-2
allele num: 6614
num of homozygotes: 3

Other
type: Population
allele count: 35
allele frequency: 3.897550111358575e-2
allele num: 898
num of homozygotes: 1

South Asian
type: Population
allele count: 481
allele frequency: 2.920106847984458e-2
allele num: 16472
num of homozygotes: 14

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.32e0

DP
type: SiteQuality
SIO_000300: 2.165844e6

GenotypeQuality
all individuals: 3693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2549
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512767759893501e-5
allele num: 66104
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.399e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.154e0

VQSLOD
type: SiteQuality
SIO_000300: -8.934e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.492e0

DP
type: SiteQuality
SIO_000300: 2.007684e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16721
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
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: 16496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

DP
type: SiteQuality
SIO_000300: 2.010098e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

FS
type: SiteQuality
SIO_000300: 1.532e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 6539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22871
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 9.25e1
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: 8640
num of homozygotes: 0

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

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

African
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allele count: 27
allele frequency: 2.627992992018688e-3
allele num: 10274
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.187618882932734e-4
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.028636021100226e-5
allele num: 66350
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.307e0

QD
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SIO_000300: 1.256e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

FS
type: SiteQuality
SIO_000300: 1.156e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 2.013922e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2711
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.646e0

QD
type: SiteQuality
SIO_000300: 1.381e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.028e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 2.013269e6

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 6553
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GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.517800132522137e-5
allele num: 66404
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10294
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

DP
type: SiteQuality
SIO_000300: 2.014229e6

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 2.016439e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.961e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.511e1

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6570
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GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.017606e6

VQSLOD
type: SiteQuality
SIO_000300: -4.514e0

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

FS
type: SiteQuality
SIO_000300: 2.7754e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.533e0

QD
type: SiteQuality
SIO_000300: 2.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.243e0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3
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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
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.927153594141453e-4
allele num: 10378
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 3.809e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.002e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

QD
type: SiteQuality
SIO_000300: 3.059e1

VQSLOD
type: SiteQuality
SIO_000300: -2.221e0

DP
type: SiteQuality
SIO_000300: 2.018024e6

GenotypeQuality
all individuals: 2563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6608
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GenotypeQuality
all individuals: 3724
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.027e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 2.017899e6

QD
type: SiteQuality
SIO_000300: 1.489e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499640028797696e-5
allele num: 66672
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.018764e6

FS
type: SiteQuality
SIO_000300: 1.408e0

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

East Asian
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African
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allele num: 10398
num of homozygotes: 0

Latino
type: Population
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.99880023995201e-5
allele num: 66680
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
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South Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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DP
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

African
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

East Asian
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.349e0

VQSLOD
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InbreedingCoeff
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MQ
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DP
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QD
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16783
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 2.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 1.4205e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 2.020911e6

VQSLOD
type: SiteQuality
SIO_000300: -4.899e-1

GenotypeQuality
all individuals: 6534
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22637
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.676e0

QD
type: SiteQuality
SIO_000300: 1.102e1

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 1.724e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.021014e6

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 8652
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.021973e6

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 3.661e0

QD
type: SiteQuality
SIO_000300: 1.584e1

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 18

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 11

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 164

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 32

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 226

Other
type: Population
allele count: 414
allele frequency: 4.56953642384106e-1
allele num: 906
num of homozygotes: 85

European (Finnish)
type: Population
allele count: 2537
allele frequency: 3.850941105039466e-1
allele num: 6588
num of homozygotes: 492

African
type: Population
allele count: 7760
allele frequency: 7.460103826187272e-1
allele num: 10402
num of homozygotes: 2889

East Asian
type: Population
allele count: 2740
allele frequency: 3.179391970294732e-1
allele num: 8618
num of homozygotes: 444

South Asian
type: Population
allele count: 8045
allele frequency: 4.875166646467095e-1
allele num: 16502
num of homozygotes: 1998

Latino
type: Population
allele count: 3258
allele frequency: 2.821756452451065e-1
allele num: 11546
num of homozygotes: 470

European (Non-Finnish)
type: Population
allele count: 28110
allele frequency: 4.219200288184438e-1
allele num: 66624
num of homozygotes: 5948

DP
type: SiteQuality
SIO_000300: 3.130416e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.74e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 2.083e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39423
bin: 9.75e1
variant carriers: 2

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 2.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.74e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

DP
type: SiteQuality
SIO_000300: 3.130416e6

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39423
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.74e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 3.130416e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 2.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 1026
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41882
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: -2.236e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

DP
type: SiteQuality
SIO_000300: 1.698722e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.411e0

QD
type: SiteQuality
SIO_000300: 1.864e1

GenotypeQuality
all individuals: 74
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
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: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.698166e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.389e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.544e0

FS
type: SiteQuality
SIO_000300: 3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 2.853e0

DP
type: SiteQuality
SIO_000300: 1.695794e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

GenotypeQuality
all individuals: 2451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.781460782424359e-4
allele num: 10378
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.986e0

DP
type: SiteQuality
SIO_000300: 1.695058e6

FS
type: SiteQuality
SIO_000300: 1.114e0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 2440
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.368e0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

DP
type: SiteQuality
SIO_000300: 1.693541e6

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

QD
type: SiteQuality
SIO_000300: 9.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 943
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.926782273603083e-4
allele num: 10380
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.482e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.69354e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 2.399e1

VQSLOD
type: SiteQuality
SIO_000300: -2.627e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.692362e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.469e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 2411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.692014e6

MQRankSum
type: SiteQuality
SIO_000300: -8.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: -1.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.39e-1

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 1.690939e6

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 25
allele frequency: 2.412661648330438e-3
allele num: 10362
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

DP
type: SiteQuality
SIO_000300: 1.690939e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.689696e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.344e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

FS
type: SiteQuality
SIO_000300: 1.619e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e0

QD
type: SiteQuality
SIO_000300: 7.73e0

DP
type: SiteQuality
SIO_000300: 1.68857e6

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.18e1

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.954e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.356e0

DP
type: SiteQuality
SIO_000300: 1.685775e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 4.7e0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 1.022e0

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 1.68403e6

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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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: 1718
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42802
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051493120230728e-4
allele num: 66572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 2.187e0

QD
type: SiteQuality
SIO_000300: 1.336e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 1.679564e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 1702
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variant carriers: 1

GenotypeQuality
all individuals: 2213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

DP
type: SiteQuality
SIO_000300: 1.675387e6

VQSLOD
type: SiteQuality
SIO_000300: -1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 3.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.649e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 5.86e0

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

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

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

GenotypeQuality
all individuals: 284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e0

QD
type: SiteQuality
SIO_000300: 1.323e1

VQSLOD
type: SiteQuality
SIO_000300: -8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.674592e6

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

GenotypeQuality
all individuals: 282
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8963
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.544163063619518e-4
allele num: 6476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.581960998392624e-5
allele num: 65946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

FS
type: SiteQuality
SIO_000300: 1.614e0

QD
type: SiteQuality
SIO_000300: 1.126e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.647287e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

GenotypeQuality
all individuals: 735
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.242152466367713e-3
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

DP
type: SiteQuality
SIO_000300: 1.645858e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.692e0

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.298e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-5
allele num: 65880
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.643682e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 6.67e0

FS
type: SiteQuality
SIO_000300: 2.203e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: -1.093e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 41459
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043584124665206e-5
allele num: 65712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 1.638657e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.461e-1

FS
type: SiteQuality
SIO_000300: 1.2104e1

QD
type: SiteQuality
SIO_000300: 1.282e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523229246001523e-5
allele num: 65650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.466395363176717e-4
allele num: 16218
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

QD
type: SiteQuality
SIO_000300: 1.226e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.634383e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8719
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523554147114388e-5
allele num: 65636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.482e0

QD
type: SiteQuality
SIO_000300: 1.254e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.463e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 1.121e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.631255e6

MQ
type: SiteQuality
SIO_000300: 5.909e1