3-186435357-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186435357
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 186435357
    reference: chr 3
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113889
  ensembl protein: ENSP00000287611
  ensembl transcript: ENST00000287611
  gene symbol: KNG1
  hgvsc: ENST00000287611.2:c.26T>G
  hgvsp: ENSP00000287611.2:p.Leu9Arg
  variant of: http://identifiers.org/hgnc/6383
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113889
  ensembl protein: ENSP00000396025
  ensembl transcript: ENST00000447445
  gene symbol: KNG1
  hgvsc: ENST00000447445.1:c.26T>G
  hgvsp: ENSP00000396025.1:p.Leu9Arg
  variant of: http://identifiers.org/hgnc/6383
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113889
  ensembl protein: ENSP00000265023
  ensembl transcript: ENST00000265023
  gene symbol: KNG1
  hgvsc: ENST00000265023.4:c.26T>G
  hgvsp: ENSP00000265023.4:p.Leu9Arg
  variant of: http://identifiers.org/hgnc/6383
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197099
  ensembl transcript: ENST00000599314
  gene symbol: RP11-573D15.8
  hgvsc: ENST00000599314.1:n.554A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu9Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-28241089-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241089
    reference: chr 1
allele count: 1
allele frequency: 8.547592997811816e-6
allele num: 116992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+49G>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-135G>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000387649
  ensembl transcript: ENST00000444045
  gene symbol: RPA2
  hgvsc: ENST00000444045.1:c.-135G>T
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22191
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-28241089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241089
    reference: chr 1
allele count: 2
allele frequency: 1.709518599562363e-5
allele num: 116992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+49G>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-135G>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000387649
  ensembl transcript: ENST00000444045
  gene symbol: RPA2
  hgvsc: ENST00000444045.1:c.-135G>A
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-28241097-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241097
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241097
    reference: chr 1
allele count: 1
allele frequency: 8.572212316554656e-6
allele num: 116656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+41C>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-143C>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000387649
  ensembl transcript: ENST00000444045
  gene symbol: RPA2
  hgvsc: ENST00000444045.1:c.-143C>T
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-28241104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241104
    reference: chr 1
allele count: 1
allele frequency: 8.582217645039478e-6
allele num: 116520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+34G>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-150G>A
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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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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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9074
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-28241105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241105
    reference: chr 1
allele count: 11
allele frequency: 9.46187723644371e-5
allele num: 116256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-151G>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+33G>A
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5778
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63936
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-28241107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241107
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241107
    reference: chr 1
allele count: 1
allele frequency: 8.610446193321739e-6
allele num: 116138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+31C>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-153C>T
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6492
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-28241109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241109
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241109
    reference: chr 1
allele count: 3
allele frequency: 2.580689560250499e-5
allele num: 116248
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-155C>G
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+29C>G
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11258
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-28241113-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241113
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241113
    reference: chr 1
allele count: 1
allele frequency: 8.612225915910226e-6
allele num: 116114
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-159G>C
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+25G>C
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 876
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-28241125-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241125
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241125
    reference: chr 1
allele count: 1
allele frequency: 8.616232982939859e-6
allele num: 116060
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-171T>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+13T>A
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11264
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-28241130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241130
    reference: chr 1
allele count: 1
allele frequency: 8.62902112384371e-6
allele num: 115888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+8C>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-176C>T
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.34+8C>T
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.569513764635716e-5
  allele num: 63714
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-28241131-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241131
    reference: chr 1
allele count: 1
allele frequency: 8.643191757852339e-6
allele num: 115698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+7A>G
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-177A>G
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.34+7A>G
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16140
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-28241136-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241136
    reference: chr 1
allele count: 1
allele frequency: 8.660708099494215e-6
allele num: 115464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+2T>G
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-182T>G
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
hgvs: c.34+2T>G
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8728
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

1-28241137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241137
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241137
    reference: chr 1
allele count: 2
allele frequency: 1.732411690314086e-5
allele num: 115446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.34+1G>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-183G>A
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22035
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
hgvs: c.34+1G>A
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11250
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-28241145-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241145
    reference: chr 1
allele count: 80
allele frequency: 6.945409084595083e-4
allele num: 115184
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-191T>C
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.27T>C
  hgvsp: ENST00000373909.3:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19695
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 146
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22411
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 35427
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 9.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg9Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8502
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-28241150-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241150
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241150
    reference: chr 1
allele count: 4
allele frequency: 3.483470930435086e-5
allele num: 114828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.22A>C
  hgvsp: ENSP00000363017.3:p.Lys8Gln
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-196A>C
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
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genotype quality: GenotypeQuality
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  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: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 604
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genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 618
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys8Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16078
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-28241151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241151
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241151
    reference: chr 1
allele count: 3
allele frequency: 2.61310384474679e-5
allele num: 114806
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-197C>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.21C>T
  hgvsp: ENST00000373909.3:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19688
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
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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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn7Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 868
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-28241156-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241156
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241156
    reference: chr 1
allele count: 2
allele frequency: 1.748740906547286e-5
allele num: 114368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-202A>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.16A>T
  hgvsp: ENSP00000363017.3:p.Arg6Trp
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg6Trp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11220
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-28241160-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241160
    reference: chr 1
allele count: 1
allele frequency: 8.757794437048973e-6
allele num: 114184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.12A>C
  hgvsp: ENST00000373909.3:c.12A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-206A>C
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly4Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11210
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

1-28241166-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241167
    reference: chr 1
allele count: 1
allele frequency: 8.794920054176708e-6
allele num: 113702
alternate allele: GC
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-213dupG
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.5dupG
  hgvsp: ENSP00000363017.3:p.Arg3GlnfsTer8
  variant of: http://identifiers.org/hgnc/10290
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34531
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg3GlnfsTer8
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62394
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-28241171-T-TGCTCCAGAAAACGCGTACTGCGCTCCCAGTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241203
    reference: chr 1
allele count: 1
allele frequency: 8.820675663755844e-6
allele num: 113370
alternate allele: TGCTCCAGAAAACGCGTACTGCGCTCCCAGTTG
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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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: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 604
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genotype quality: GenotypeQuality
  all individuals: 315
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 860
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-28241177-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241177
    reference: chr 1
allele count: 1
allele frequency: 8.850184083828943e-6
allele num: 112992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-6T>G
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-223T>G
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19024
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 274
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genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 32650
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5937
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.301991429291656e-5
  allele num: 15868
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-28241179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241179
    reference: chr 1
allele count: 561
allele frequency: 4.971024509543303e-3
allele num: 112854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-8T>C
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-225T>C
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5459
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  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
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  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 2255
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  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 18840
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 44
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 289
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  variant carriers: 17
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 9.75e1
  variant carriers: 535
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1804
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4576
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genotype quality: GenotypeQuality
  all individuals: 1506
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genotype quality: GenotypeQuality
  all individuals: 779
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genotype quality: GenotypeQuality
  all individuals: 392
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genotype quality: GenotypeQuality
  all individuals: 1146
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 433
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 589
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  variant carriers: 3
num of homozygotes: 3
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.165501165501166e-3
  allele num: 858
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-28241183-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241183
    reference: chr 1
allele count: 561
allele frequency: 4.990126487698137e-3
allele num: 112422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-12G>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-229G>T
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17954
  bin: 2.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2348
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genotype depth: GenotypeDepth
  all individuals: 2167
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  variant carriers: 32
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 16981
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 23
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 511
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28260
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genotype quality: GenotypeQuality
  all individuals: 1914
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genotype quality: GenotypeQuality
  all individuals: 1395
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1234
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 872
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genotype quality: GenotypeQuality
  all individuals: 1939
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genotype quality: GenotypeQuality
  all individuals: 778
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 4
num of homozygotes: 3
population: African
  type: Population
  allele count: 8
  allele frequency: 9.682885499878964e-4
  allele num: 8262
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-28241184-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241184
    reference: chr 1
allele count: 4
allele frequency: 3.562839583147769e-5
allele num: 112270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-13C>G
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-230C>G
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 19
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genotype depth: GenotypeDepth
  all individuals: 701
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  all individuals: 273
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genotype depth: GenotypeDepth
  all individuals: 1170
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 593
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 775
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 854
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-28241187-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241187
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241187
    reference: chr 1
allele count: 2
allele frequency: 1.782594744910692e-5
allele num: 112196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-16A>G
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-233A>G
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
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genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11042
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-28241192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241192
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241192
    reference: chr 1
allele count: 1
allele frequency: 8.961697704013048e-6
allele num: 111586
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-238G>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-21G>A
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.633933531583935e-5
  allele num: 61202
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-28241193-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241193
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241193
    reference: chr 1
allele count: 1
allele frequency: 8.963304232472258e-6
allele num: 111566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-22C>G
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-239C>G
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Other
  type: Population
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  allele num: 848
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
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site quality: ClippingRankSum

1-28241196-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241196
    reference: chr 1
allele count: 4
allele frequency: 3.585450242914254e-5
allele num: 111562
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-242G>C
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-25G>C
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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num of homozygotes: 0
population: South Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 15680
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
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site quality: MQ
site quality: VQSLOD
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1-28241196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241196
    reference: chr 1
allele count: 5
allele frequency: 4.481812803642818e-5
allele num: 111562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-25G>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-242G>A
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10966
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-28241197-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241197
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241197
    reference: chr 1
allele count: 2
allele frequency: 1.796428699744907e-5
allele num: 111332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-243G>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-26G>A
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12342
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15652
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-28241202-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241202
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241202
    reference: chr 1
allele count: 1
allele frequency: 8.98908724808083e-6
allele num: 111246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-248A>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-31A>T
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 848
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

1-28241203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241203
    reference: chr 1
allele count: 1
allele frequency: 9.009658353755226e-6
allele num: 110992
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-249C>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-32C>T
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8118
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-28241204-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241204
    reference: chr 1
allele count: 1
allele frequency: 9.014531424656546e-6
allele num: 110932
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-250C>A
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-33C>A
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8114
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-28241206-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241206
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241206
    reference: chr 1
allele count: 1
allele frequency: 9.06158251477038e-6
allele num: 110356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-252A>C
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-35A>C
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10544
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  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
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 425
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 56
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 580
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 6007
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 576
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8206
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-28241208-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241208
    reference: chr 1
allele count: 1
allele frequency: 9.083147128817192e-6
allele num: 110094
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-254G>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-37G>T
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
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genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 425
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.655300271469245e-5
  allele num: 60412
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-28241212-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241212
    reference: chr 1
allele count: 2
allele frequency: 1.819869333381863e-5
allele num: 109898
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-258T>G
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-41T>G
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.459113809585325e-5
  allele num: 15482
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

1-28241216-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28241216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28241216
    reference: chr 1
allele count: 1
allele frequency: 9.171451106994149e-6
allele num: 109034
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363021
  ensembl transcript: ENST00000373912
  gene symbol: RPA2
  hgvsc: ENST00000373912.3:c.-262A>T
  variant of: http://identifiers.org/hgnc/10290
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117748
  ensembl protein: ENSP00000363017
  ensembl transcript: ENST00000373909
  gene symbol: RPA2
  hgvsc: ENST00000373909.3:c.-45A>T
  variant of: http://identifiers.org/hgnc/10290
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1162
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7908
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-28261648-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261648
    reference: chr 1
allele count: 7
allele frequency: 7.367025195226167e-5
allele num: 95018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.82C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-47C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-47C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-47C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-47C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-47C>G
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14411
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7703
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

1-28261653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261653
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261653
    reference: chr 1
allele count: 1
allele frequency: 1.098901098901099e-5
allele num: 91000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.87G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-42G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-42G>A
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-28261655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261655
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261655
    reference: chr 1
allele count: 3
allele frequency: 3.276039050385481e-5
allele num: 91574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-40G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-40G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-40G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.89G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-40G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-40G>A
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

1-28261658-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261659
    reference: chr 1
allele count: 50498
allele frequency: 4.274275460455038e-1
allele num: 118144
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-36dupG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-36dupG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-36dupG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-36dupG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.93dupG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-36dupG
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14384
  bin: 2.25e1
  variant carriers: 7285
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 587
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 1.25e1
  variant carriers: 1927
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 1.75e1
  variant carriers: 4761
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 2.75e1
  variant carriers: 7838
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.75e1
  variant carriers: 1528
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 3.75e1
  variant carriers: 4033
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.5e0
  variant carriers: 371
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 3.25e1
  variant carriers: 6217
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 421
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 4.25e1
  variant carriers: 2522
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 843
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 403
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.25e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 689
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.5e0
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 4.25e1
  variant carriers: 303
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.75e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 5.25e1
  variant carriers: 612
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 212
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 6.75e1
  variant carriers: 827
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 8.25e1
  variant carriers: 867
num of homozygotes: 11104
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-28261668-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261668
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261668
    reference: chr 1
allele count: 1
allele frequency: 8.368340892734607e-6
allele num: 119498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-27A>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.102A>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-27A>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-27A>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-27A>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-27A>T
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17214
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7735
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-28261669-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261669
    reference: chr 1
allele count: 3
allele frequency: 2.512478643931527e-5
allele num: 119404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-26C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.103C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-26C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-26C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-26C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-26C>G
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16664
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17258
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7184
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-28261669-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261668
    reference: chr 1
allele count: 1
allele frequency: 8.374928813105088e-6
allele num: 119404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-24delG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-24delG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-24delG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-24delG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-24delG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.105delG
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: CG
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-28261670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261670
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261670
    reference: chr 1
allele count: 295
allele frequency: 2.467669349037191e-3
allele num: 119546
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-25G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-25G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.104G>A
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 17564
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-28261671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261671
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261671
    reference: chr 1
allele count: 1
allele frequency: 8.362182864214875e-6
allele num: 119586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-24G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.105G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-24G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16969
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-28261671-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261671
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261671
    reference: chr 1
allele count: 1
allele frequency: 8.362182864214875e-6
allele num: 119586
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-24G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-24G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.105G>C
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

1-28261674-C-CTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261676
    reference: chr 1
allele count: 64
allele frequency: 5.348666176372267e-4
allele num: 119656
alternate allele: CTG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-20_-19dupTG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.109_110dupTG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-20_-19dupTG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-20_-19dupTG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-20_-19dupTG
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-20_-19dupTG
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18165
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 17227
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

1-28261676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261676
    reference: chr 1
allele count: 2
allele frequency: 1.670676289762096e-5
allele num: 119712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-19G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-19G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.110G>A
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-28261679-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261679
    reference: chr 1
allele count: 1
allele frequency: 8.345852111500584e-6
allele num: 119820
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-16G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-16G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-16G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-16G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.113G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-16G>C
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18604
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

1-28261681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261681
    reference: chr 1
allele count: 36
allele frequency: 3.002802615774723e-4
allele num: 119888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.115A>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-14A>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-14A>G
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18786
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17748
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7947
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-28261682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261682
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261682
    reference: chr 1
allele count: 2
allele frequency: 1.667778519012675e-5
allele num: 119920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-13G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.116G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-13G>A
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18797
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7214
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-28261682-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261682
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261682
    reference: chr 1
allele count: 116
allele frequency: 9.673115410273516e-4
allele num: 119920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.116G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-13G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-13G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18797
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17781
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-28261690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261690
    reference: chr 1
allele count: 2
allele frequency: 1.66497394315779e-5
allele num: 120122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-5C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.124C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-5C>T
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7129
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-28261691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261691
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261691
    reference: chr 1
allele count: 28
allele frequency: 2.330303938213656e-4
allele num: 120156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.125G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.-4G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.-4G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18481
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7140
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-28261701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261701
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261701
    reference: chr 1
allele count: 12
allele frequency: 9.972741174124061e-5
allele num: 120328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.7C>T
  hgvsp: ENST00000411604.1:c.7C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.7C>T
  hgvsp: ENST00000548116.1:c.7C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.7C>T
  hgvsp: ENST00000373888.4:c.7C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.135C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.7C>T
  hgvsp: ENST00000373894.3:c.7C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.7C>T
  hgvsp: ENST00000549094.1:c.7C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18917
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu3Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-28261706-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261706
    reference: chr 1
allele count: 11
allele frequency: 9.136060862776366e-5
allele num: 120402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.140C>G
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.12C>G
  hgvsp: ENST00000549094.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.12C>G
  hgvsp: ENST00000373888.4:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.12C>G
  hgvsp: ENST00000411604.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.12C>G
  hgvsp: ENST00000548116.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.12C>G
  hgvsp: ENST00000373894.3:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu4Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

1-28261707-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261707
    reference: chr 1
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.13G>A
  hgvsp: ENSP00000362995.4:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.13G>A
  hgvsp: ENSP00000388092.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.13G>A
  hgvsp: ENSP00000449450.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.13G>A
  hgvsp: ENSP00000363001.3:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.13G>A
  hgvsp: ENSP00000449057.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.141G>A
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala5Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-28261709-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261709
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261709
    reference: chr 1
allele count: 5
allele frequency: 4.150617611900651e-5
allele num: 120464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.15C>G
  hgvsp: ENST00000548116.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.15C>G
  hgvsp: ENST00000373894.3:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.15C>G
  hgvsp: ENST00000373888.4:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.15C>G
  hgvsp: ENST00000411604.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.15C>G
  hgvsp: ENST00000549094.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.143C>G
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7125
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala5Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-28261712-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261712
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261712
    reference: chr 1
allele count: 6
allele frequency: 4.979418403930421e-5
allele num: 120496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.18G>C
  hgvsp: ENSP00000449057.1:p.Trp6Cys
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.146G>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.18G>C
  hgvsp: ENSP00000449450.1:p.Trp6Cys
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.18G>C
  hgvsp: ENSP00000388092.1:p.Trp6Cys
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.18G>C
  hgvsp: ENSP00000362995.4:p.Trp6Cys
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.18G>C
  hgvsp: ENSP00000363001.3:p.Trp6Cys
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7129
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Trp6Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-28261717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261717
    reference: chr 1
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.151T>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.23T>C
  hgvsp: ENSP00000363001.3:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.23T>C
  hgvsp: ENSP00000388092.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.23T>C
  hgvsp: ENSP00000449057.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.23T>C
  hgvsp: ENSP00000362995.4:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.23T>C
  hgvsp: ENSP00000449450.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile8Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-28261726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261726
    reference: chr 1
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.160C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.32C>T
  hgvsp: ENSP00000363001.3:p.Ala11Val
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.32C>T
  hgvsp: ENSP00000449057.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.32C>T
  hgvsp: ENSP00000362995.4:p.Ala11Val
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.32C>T
  hgvsp: ENSP00000388092.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.32C>T
  hgvsp: ENSP00000449450.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala11Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-28261731-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261731
    reference: chr 1
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.37T>A
  hgvsp: ENSP00000362995.4:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.37T>A
  hgvsp: ENSP00000449450.1:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.165T>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.37T>A
  hgvsp: ENSP00000388092.1:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.37T>A
  hgvsp: ENSP00000449057.1:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.37T>A
  hgvsp: ENSP00000363001.3:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7124
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp13Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

1-28261732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261732
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261732
    reference: chr 1
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.38G>A
  hgvsp: ENSP00000449450.1:p.Trp13Ter
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.38G>A
  hgvsp: ENSP00000363001.3:p.Trp13Ter
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.38G>A
  hgvsp: ENSP00000388092.1:p.Trp13Ter
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.38G>A
  hgvsp: ENSP00000362995.4:p.Trp13Ter
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.166G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.38G>A
  hgvsp: ENSP00000449057.1:p.Trp13Ter
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp13Ter
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-28261749-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261749
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261748
    reference: chr 1
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.57delA
  hgvsp: ENSP00000362995.4:p.Glu19AspfsTer60
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.185delA
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.57delA
  hgvsp: ENSP00000449450.1:p.Glu19AspfsTer60
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.57delA
  hgvsp: ENSP00000449057.1:p.Glu19AspfsTer60
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.57delA
  hgvsp: ENSP00000363001.3:p.Glu19AspfsTer60
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.57delA
  hgvsp: ENSP00000388092.1:p.Glu19AspfsTer90
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu19AspfsTer60
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: GA
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-28261756-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261756
    reference: chr 1
allele count: 3
allele frequency: 2.48809859505366e-5
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.61+1G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.189+1G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.61+1G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.61+1G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.61+1G>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.61+1G>T
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18483
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
hgvs: c.61+1G>T
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-28261759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261759
    reference: chr 1
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.61+4C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.189+4C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.61+4C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.61+4C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.61+4C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.61+4C>T
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
hgvs: c.61+4C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-28261762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261762
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261762
    reference: chr 1
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.61+7C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.61+7C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.61+7C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.61+7C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.189+7C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.61+7C>T
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.25e1
  variant carriers: 0
hgvs: c.61+7C>T
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

1-28261764-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261764
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261764
    reference: chr 1
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.61+9C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.61+9C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.61+9C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.61+9C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.61+9C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.189+9C>T
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-28261766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261766
    reference: chr 1
allele count: 3
allele frequency: 2.4906600249066e-5
allele num: 120450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.61+11G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.61+11G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.61+11G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.61+11G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.61+11G>A
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.189+11G>A
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-28261783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261783
    reference: chr 1
allele count: 1
allele frequency: 8.325701440346349e-6
allele num: 120110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.61+28C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.61+28C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.61+28C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.61+28C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.189+28C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.61+28C>T
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

1-28261785-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261785
    reference: chr 1
allele count: 2
allele frequency: 1.665112561609165e-5
allele num: 120112
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.61+30T>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.61+30T>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.189+30T>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.61+30T>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.61+30T>C
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.61+30T>C
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15058
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-28261794-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28261794
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28261792
    reference: chr 1
allele count: 3
allele frequency: 2.503421342501419e-5
allele num: 119836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.61+40_61+41delCT
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.61+40_61+41delCT
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.61+40_61+41delCT
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.61+40_61+41delCT
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.61+40_61+41delCT
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.189+40_189+41delCT
  variant of: http://identifiers.org/hgnc/21416
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: ACT
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-28268749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28268749
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28268749
    reference: chr 1
allele count: 1
allele frequency: 7.518796992481203e-5
allele num: 13300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000363001
  ensembl transcript: ENST00000373894
  gene symbol: SMPDL3B
  hgvsc: ENST00000373894.3:c.62-2994C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000362995
  ensembl transcript: ENST00000373888
  gene symbol: SMPDL3B
  hgvsc: ENST00000373888.4:c.62-2994C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000388092
  ensembl transcript: ENST00000411604
  gene symbol: SMPDL3B
  hgvsc: ENST00000411604.1:c.62-37C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449450
  ensembl transcript: ENST00000549094
  gene symbol: SMPDL3B
  hgvsc: ENST00000549094.1:c.62-2994C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl transcript: ENST00000466793
  gene symbol: SMPDL3B
  hgvsc: ENST00000466793.1:n.423-37C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130768
  ensembl protein: ENSP00000449057
  ensembl transcript: ENST00000548116
  gene symbol: SMPDL3B
  hgvsc: ENST00000548116.1:c.62-2994C>T
  variant of: http://identifiers.org/hgnc/21416
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227050
  ensembl transcript: ENST00000448015
  gene symbol: RP11-460I13.2
  hgvsc: ENST00000448015.1:n.287-3159G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 2547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5673
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.143e0

FS
type: SiteQuality
SIO_000300: 1.983e0

MQRankSum
type: SiteQuality
SIO_000300: -1.367e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: -4.279e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 2.322031e6

GenotypeQuality
all individuals: 6923
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.71e0

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 7.742e0

DP
type: SiteQuality
SIO_000300: 1.503788e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

GenotypeQuality
all individuals: 1528
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.107713344521101e-5
allele num: 64356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

QD
type: SiteQuality
SIO_000300: 7.71e0

FS
type: SiteQuality
SIO_000300: 7.742e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.503788e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 1628
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559138108453647e-5
allele num: 64138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.495691e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.641e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.175088131609871e-4
allele num: 8510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.500648e6

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.9e0

VQSLOD
type: SiteQuality
SIO_000300: -3.974e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 4.529e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.293508936970837e-3
allele num: 8504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.27e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.499178e6

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

FS
type: SiteQuality
SIO_000300: 1.942e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.771e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

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: 8988
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 1.503429e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.852995676343422e-4
allele num: 16190
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.387e1

FS
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.505608e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566416040100251e-5
allele num: 63840
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.167e0

QD
type: SiteQuality
SIO_000300: 6.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.511085e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566759627737912e-5
allele num: 63826
num of homozygotes: 0

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

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: 8888
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
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South Asian
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.528825e6

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

VQSLOD
type: SiteQuality
SIO_000300: -1.685e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.224e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8534
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
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MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

FS
type: SiteQuality
SIO_000300: 5.287e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 7.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.824e0

DP
type: SiteQuality
SIO_000300: 1.53138e6

VQSLOD
type: SiteQuality
SIO_000300: -5.104e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
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Latino
type: Population
allele count: 1
allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63582
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
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DP
type: SiteQuality
SIO_000300: 1.528137e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 1.596e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

QD
type: SiteQuality
SIO_000300: 8.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

VQSLOD
type: SiteQuality
SIO_000300: -9.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63450
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East Asian
type: Population
allele count: 1
allele frequency: 1.173158141717503e-4
allele num: 8524
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.257e0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

FS
type: SiteQuality
SIO_000300: 2.612e0

QD
type: SiteQuality
SIO_000300: 9.66e0

DP
type: SiteQuality
SIO_000300: 1.529214e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

East Asian
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allele frequency: 0.0e0
allele num: 8522
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576441655894315e-5
allele num: 63434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
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African
type: Population
allele count: 1
allele frequency: 1.145737855178735e-4
allele num: 8728
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
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VQSLOD
type: SiteQuality
SIO_000300: -9.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
SIO_000300: 7.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 2.159e0

DP
type: SiteQuality
SIO_000300: 1.530862e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

South Asian
type: Population
allele count: 75
allele frequency: 4.659542743538767e-3
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Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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Latino
type: Population
allele count: 1
allele frequency: 8.890469416785207e-5
allele num: 11248
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.739186755552747e-5
allele num: 63302
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.53155e6

QD
type: SiteQuality
SIO_000300: 1.167e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
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African
type: Population
allele count: 4
allele frequency: 4.672897196261682e-4
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63076
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QD
type: SiteQuality
SIO_000300: 1.355e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.525485e6

FS
type: SiteQuality
SIO_000300: 1.744e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

Latino
type: Population
allele count: 2
allele frequency: 1.778726431874778e-4
allele num: 11244
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58553987632789e-5
allele num: 63070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.33e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

DP
type: SiteQuality
SIO_000300: 1.52639e6

East Asian
type: Population
allele count: 0
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allele num: 8472
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16026
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.1855249745158e-5
allele num: 62784
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.146e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

DP
type: SiteQuality
SIO_000300: 1.519983e6

QD
type: SiteQuality
SIO_000300: 1.623e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 3.345e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
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South Asian
type: Population
allele count: 1
allele frequency: 6.247657128576784e-5
allele num: 16006
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62680
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Other
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allele count: 0
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allele num: 864
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.898e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.517577e6

QD
type: SiteQuality
SIO_000300: 5.69e0

Other
type: Population
allele count: 0
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Latino
type: Population
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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allele count: 1
allele frequency: 6.264879087833605e-5
allele num: 15962
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FS
type: SiteQuality
SIO_000300: 1.263e0

DP
type: SiteQuality
SIO_000300: 1.508083e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 1.454e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608130708864017e-5
allele num: 62184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
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Latino
type: Population
allele count: 0
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num of homozygotes: 0

African
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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allele num: 8416
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.855e0

FS
type: SiteQuality
SIO_000300: 2.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.432e1

DP
type: SiteQuality
SIO_000300: 1.497882e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61986
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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allele num: 11110
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DP
type: SiteQuality
SIO_000300: 1.479021e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

FS
type: SiteQuality
SIO_000300: 4.693e0

VQSLOD
type: SiteQuality
SIO_000300: -6.421e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.147e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

European (Non-Finnish)
type: Population
allele count: 370
allele frequency: 5.974680273866426e-3
allele num: 61928
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 20
allele frequency: 1.804077214504781e-3
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num of homozygotes: 0

South Asian
type: Population
allele count: 159
allele frequency: 1.00366115389471e-2
allele num: 15842
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.220216606498195e-4
allele num: 8310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.747133560582584e-4
allele num: 6454
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.657e0

QD
type: SiteQuality
SIO_000300: 1.057e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.474651e6

European (Non-Finnish)
type: Population
allele count: 369
allele frequency: 5.983460353494406e-3
allele num: 61670
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.756748371082842e-4
allele num: 6446
num of homozygotes: 0

South Asian
type: Population
allele count: 158
allele frequency: 9.996203973174744e-3
allele num: 15806
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.17096018735363e-3
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 1.811266074986415e-3
allele num: 11042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.881e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.445318e6

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624589791077753e-5
allele num: 61554
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.717391304347826e-4
allele num: 11040
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.439574e6

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.250658258297305e-5
allele num: 61526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

FS
type: SiteQuality
SIO_000300: 6.118e0

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

QD
type: SiteQuality
SIO_000300: 1.348e1

DP
type: SiteQuality
SIO_000300: 1.428555e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.336e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.381e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.399187e6

QD
type: SiteQuality
SIO_000300: 6.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.107468123861566e-5
allele num: 10980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.59e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.162e0

DP
type: SiteQuality
SIO_000300: 1.384998e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.555e0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.538084341288002e-5
allele num: 61180
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.296e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.374861e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.275510204081633e-4
allele num: 15680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.269042170644001e-5
allele num: 61180
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.206563706563707e-4
allele num: 8288
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 1.374861e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.296e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.27653997378768e-5
allele num: 61040
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.142e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.845e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.35586e6

VQSLOD
type: SiteQuality
SIO_000300: -5.662e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.639559286463799e-5
allele num: 60992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.92e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.341208e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.414368184733804e-5
allele num: 15590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60868
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.918e0

DP
type: SiteQuality
SIO_000300: 1.326622e6

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.104e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643979746169527e-5
allele num: 60828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.320829e6

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.358e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.447453255963895e-5
allele num: 15510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.565e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 6.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.297391e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.034e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

FS
type: SiteQuality
SIO_000300: 1.436e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 1.296134e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658319790388379e-5
allele num: 60302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.015e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.277316e6

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.373828271466067e-5
allele num: 10668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 8.9e0

DP
type: SiteQuality
SIO_000300: 1.260094e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.262e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

GenotypeQuality
all individuals: 3128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5004
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5477
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.153269519086611e-4
allele num: 52026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.111358079573238e-4
allele num: 8998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.54889e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

QD
type: SiteQuality
SIO_000300: 1.476e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

GenotypeQuality
all individuals: 4879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.017349203147065e-5
allele num: 49570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.448e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

DP
type: SiteQuality
SIO_000300: 1.588415e6

VQSLOD
type: SiteQuality
SIO_000300: -4.479e-1

QD
type: SiteQuality
SIO_000300: 1.066e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 2102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5318
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.01010546577375e-5
allele num: 49874
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.003009027081244e-4
allele num: 9970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

QD
type: SiteQuality
SIO_000300: 2.101e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

FS
type: SiteQuality
SIO_000300: 4.767e0

VQSLOD
type: SiteQuality
SIO_000300: -1.497e0

DP
type: SiteQuality
SIO_000300: 1.596435e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 739
bin: 5.75e1
variant carriers: 558

GenotypeQuality
all individuals: 1203
bin: 3.75e1
variant carriers: 290

GenotypeQuality
all individuals: 1123
bin: 4.75e1
variant carriers: 442

GenotypeQuality
all individuals: 1036
bin: 8.75e1
variant carriers: 732

GenotypeQuality
all individuals: 924
bin: 9.25e1
variant carriers: 540

GenotypeQuality
all individuals: 8640
bin: 6.25e1
variant carriers: 704

GenotypeQuality
all individuals: 1715
bin: 7.75e1
variant carriers: 726

GenotypeQuality
all individuals: 34041
bin: 9.75e1
variant carriers: 31971

East Asian
type: Population
allele count: 1340
allele frequency: 1.59144893111639e-1
allele num: 8420
num of homozygotes: 90

South Asian
type: Population
allele count: 9129
allele frequency: 5.647036991216132e-1
allele num: 16166
num of homozygotes: 2597

European (Finnish)
type: Population
allele count: 2869
allele frequency: 4.574298469387755e-1
allele num: 6272
num of homozygotes: 635

European (Non-Finnish)
type: Population
allele count: 29405
allele frequency: 4.521063960639606e-1
allele num: 65040
num of homozygotes: 6473

Other
type: Population
allele count: 416
allele frequency: 4.781609195402299e-1
allele num: 870
num of homozygotes: 99

Latino
type: Population
allele count: 3887
allele frequency: 3.457569827432841e-1
allele num: 11242
num of homozygotes: 628

African
type: Population
allele count: 3452
allele frequency: 3.406354845075982e-1
allele num: 10134
num of homozygotes: 582

QD
type: SiteQuality
SIO_000300: 2.146e1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 1.803039e6

GenotypeQuality
all individuals: 26084
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520820026158104e-5
allele num: 65754
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.327e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQ
type: SiteQuality
SIO_000300: 6.098e1

DP
type: SiteQuality
SIO_000300: 1.774822e6

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

QD
type: SiteQuality
SIO_000300: 2.57e0

GenotypeQuality
all individuals: 733
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7655
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 734
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.848884506347837e-4
allele num: 16226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 5.981e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.016e1

DP
type: SiteQuality
SIO_000300: 1.779246e6

GenotypeQuality
all individuals: 1122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7184
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1135
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522255373561469e-5
allele num: 65692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.016e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.981e0

DP
type: SiteQuality
SIO_000300: 1.779246e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

GenotypeQuality
all individuals: 7394
bin: 9.75e1
variant carriers: 294

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7733
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 25
allele frequency: 2.183024799161719e-3
allele num: 11452
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.821666014861165e-4
allele num: 10228
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.721170395869191e-3
allele num: 16268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.407337723424271e-4
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 227
allele frequency: 3.452156457205426e-3
allele num: 65756
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

QD
type: SiteQuality
SIO_000300: 1.394e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.0e0

DP
type: SiteQuality
SIO_000300: 1.785507e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

GenotypeQuality
all individuals: 1126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7148
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.189000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.786239e6

QD
type: SiteQuality
SIO_000300: 7.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

FS
type: SiteQuality
SIO_000300: 4.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.915e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 7777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519987840097279e-5
allele num: 65790
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: 11446
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.786239e6

QD
type: SiteQuality
SIO_000300: 7.17e0

VQSLOD
type: SiteQuality
SIO_000300: -9.189000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.416e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.915e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7202
bin: 9.75e1
variant carriers: 64

GenotypeQuality
all individuals: 7815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28200
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519156564275514e-5
allele num: 65826
num of homozygotes: 0

African
type: Population
allele count: 60
allele frequency: 5.868544600938967e-3
allele num: 10224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.619172341540073e-4
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.586e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQ
type: SiteQuality
SIO_000300: 5.709e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.115e1

DP
type: SiteQuality
SIO_000300: 1.79383e6

GenotypeQuality
all individuals: 3116
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 28499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037390274276342e-5
allele num: 65846
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.405e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.799463e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.63e0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

FS
type: SiteQuality
SIO_000300: 7.466e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e-1

MQ
type: SiteQuality
SIO_000300: 5.998e1

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

DP
type: SiteQuality
SIO_000300: 1.804445e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
all individuals: 675
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7171
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 3678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.148029949674727e-3
allele num: 16294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

QD
type: SiteQuality
SIO_000300: 1.428e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 1.807259e6

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 345
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

FS
type: SiteQuality
SIO_000300: 6.74e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.534e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.80949e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7214
bin: 9.75e1
variant carriers: 115

GenotypeQuality
all individuals: 2565
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29455
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 107
allele frequency: 1.041869522882181e-2
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.968641114982578e-4
allele num: 11480
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
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: 16304
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.534e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.80949e6

GenotypeQuality
all individuals: 2554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3657
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8019
bin: 6.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028559314334171e-5
allele num: 66038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

DP
type: SiteQuality
SIO_000300: 1.819914e6

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
SIO_000300: 9.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3662
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 2.136752136752137e-3
allele num: 10296
num of homozygotes: 1

Latino
type: Population
allele count: 2
allele frequency: 1.736111111111111e-4
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.541326067211626e-5
allele num: 66060
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.13e-1

DP
type: SiteQuality
SIO_000300: 1.822239e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 3124
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7131
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024071610015725e-5
allele num: 66136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.808433107756377e-4
allele num: 11526
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.231e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.829193e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.098e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.042e1

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7133
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 642
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31456
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variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2536
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.27285350613284e-3
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.852e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.082e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.833093e6

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7123
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.064e1

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.044e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.760999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.833765e6

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 31715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.871467286101432e-4
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.429e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.705e0

DP
type: SiteQuality
SIO_000300: 1.835009e6

FS
type: SiteQuality
SIO_000300: 1.168e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
all individuals: 600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
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variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.837461300309598e-4
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.8371e6

FS
type: SiteQuality
SIO_000300: 1.776e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
all individuals: 172
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7124
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
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variant carriers: 0

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

GenotypeQuality
all individuals: 3146
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variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.83886e6

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7124
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.899e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.242e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.841381e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-1

MQ
type: SiteQuality
SIO_000300: 5.717e1

VQSLOD
type: SiteQuality
SIO_000300: -7.387e-1

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

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 8173
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.841948e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.071e0

QD
type: SiteQuality
SIO_000300: 8.98e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.49e-2

GenotypeQuality
all individuals: 141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.25e1
variant carriers: 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: 16400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

DP
type: SiteQuality
SIO_000300: 1.842141e6

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

FS
type: SiteQuality
SIO_000300: 1.0436e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 5.83e0

VQSLOD
type: SiteQuality
SIO_000300: -8.315e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 1126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 3655
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variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8137
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.841525e6

QD
type: SiteQuality
SIO_000300: 1.294e1

FS
type: SiteQuality
SIO_000300: 6.249e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.513e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.072e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734304543877905e-4
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.021e0

DP
type: SiteQuality
SIO_000300: 1.839388e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

FS
type: SiteQuality
SIO_000300: 1.8722e1

QD
type: SiteQuality
SIO_000300: 1.079e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 8114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 1594
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31813
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508523155830442e-5
allele num: 66290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 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: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.849e0

QD
type: SiteQuality
SIO_000300: 1.044e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

DP
type: SiteQuality
SIO_000300: 1.838623e6

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 1594
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variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8104
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variant carriers: 0

GenotypeQuality
all individuals: 1123
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GenotypeQuality
all individuals: 3636
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.2932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

DP
type: SiteQuality
SIO_000300: 1.837521e6

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7124
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8033
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.202e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 1.834042e6

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7126
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 355
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509798592867711e-5
allele num: 66234
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.737015806843842e-4
allele num: 11514
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.834181e6

FS
type: SiteQuality
SIO_000300: 3.398e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.324e0

QD
type: SiteQuality
SIO_000300: 1.269e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 1118
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7638
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513546238837597e-5
allele num: 66070
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.38e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 5.029e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 1.80216e6

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.486e0

GenotypeQuality
all individuals: 1272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7119
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27404
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3534
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026909222992402e-5
allele num: 66074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.301e-1

DP
type: SiteQuality
SIO_000300: 1.794318e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.512e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.819e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

GenotypeQuality
all individuals: 2487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7120
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3472
bin: 7.75e1
variant carriers: 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: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65940
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.618715083798883e-4
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.753651e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 6.088e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 1.058e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.992e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.605e0