3-49849925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849925
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849925
    reference: chr 3
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.610C>T
  hgvsp: ENSP00000333266.3:p.Arg204Cys
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.664C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  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: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11260
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22055
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg204Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

3-49849931-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849931
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849931
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.658T>C
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.604T>C
  hgvsp: ENSP00000333266.3:p.Tyr202His
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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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
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 8.25e1
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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
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11294
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr202His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498621268433042e-5
  allele num: 66728
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

3-49849932-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849932
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849932
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.603C>A
  hgvsp: ENSP00000333266.3:p.His201Gln
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.657C>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
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genotype depth: GenotypeDepth
  all individuals: 110
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genotype depth: GenotypeDepth
  all individuals: 11284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11276
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6138
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  variant carriers: 0
hgvs: p.His201Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.613535858488752e-5
  allele num: 10402
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

3-49849942-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849942
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849942
    reference: chr 3
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.647C>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.593C>A
  hgvsp: ENSP00000333266.3:p.Ala198Asp
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 4.75e1
  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
  all individuals: 545
  bin: 6.75e1
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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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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10009
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  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
  all individuals: 3857
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala198Asp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-49849947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849947
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849947
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.588A>G
  hgvsp: ENST00000333486.3:c.588A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.642A>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7300
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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: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  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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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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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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  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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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys196Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

3-49849949-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849949
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849949
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.586A>G
  hgvsp: ENSP00000333266.3:p.Lys196Glu
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.640A>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  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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  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys196Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10398
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-49849959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849959
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849959
    reference: chr 3
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.576C>T
  hgvsp: ENST00000333486.3:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.630C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11262
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
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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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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  variant carriers: 0
hgvs: p.Leu192Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-49849966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849966
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849966
    reference: chr 3
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.623G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.569G>A
  hgvsp: ENSP00000333266.3:p.Gly190Asp
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
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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
  all individuals: 6116
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  variant carriers: 0
hgvs: p.Gly190Asp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-49849971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849971
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849971
    reference: chr 3
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.564C>T
  hgvsp: ENST00000333486.3:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.618C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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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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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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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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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 6103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser188Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-49849972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849972
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849972
    reference: chr 3
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.563C>T
  hgvsp: ENSP00000333266.3:p.Ser188Phe
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.617C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
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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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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Ser188Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-49849992-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849992
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849992
    reference: chr 3
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.559-16G>C
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-16G>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.75e1
  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
  all individuals: 326
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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genotype quality: GenotypeQuality
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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: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-49849998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49849998
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49849998
    reference: chr 3
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.559-22A>G
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-22A>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10009
  bin: 3.75e1
  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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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

3-49850001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850001
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850001
    reference: chr 3
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-25C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.559-25C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22064
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

3-49850007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850007
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850007
    reference: chr 3
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-31G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.559-31G>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11126
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22065
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10219
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66658
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS

3-49850020-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850020
    reference: chr 3
allele count: 44
allele frequency: 3.627011342653653e-4
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.559-44A>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-44A>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10054
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11107
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12064
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22121
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4880
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-49850036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850036
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850036
    reference: chr 3
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.558+45C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-60C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5769
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37111
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
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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: 202
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8467
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2596
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

3-49850051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850051
    reference: chr 3
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-75C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.558+30C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  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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genotype quality: GenotypeQuality
  all individuals: 7
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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: 140
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37460
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genotype quality: GenotypeQuality
  all individuals: 5749
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 669
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

3-49850053-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850053
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850053
    reference: chr 3
allele count: 1520
allele frequency: 1.253422172378534e-2
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.558+28T>C
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-77T>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 3.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 3.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 28990
  bin: 2.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37627
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6149
  bin: 9.75e1
  variant carriers: 1436
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 78
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6592
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

3-49850054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850054
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850054
    reference: chr 3
allele count: 20
allele frequency: 1.649457328538911e-4
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-78C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.558+27C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29461
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5084
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 1.92492781520693e-4
  allele num: 10390
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

3-49850079-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850079
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850079
    reference: chr 3
allele count: 2
allele frequency: 1.649566164098842e-5
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.558+2T>C
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-103T>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5045
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38696
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 8469
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: c.558+2T>C
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.000120004800192e-5
  allele num: 66664
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-49850089-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850089
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850089
    reference: chr 3
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.550A>G
  hgvsp: ENSP00000333266.3:p.Ile184Val
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-113A>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5035
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile184Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11558
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-49850099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850099
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850099
    reference: chr 3
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-123C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.540C>T
  hgvsp: ENST00000333486.3:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
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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: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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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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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
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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: 7.25e1
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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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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala180Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10390
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-49850101-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850101
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850101
    reference: chr 3
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.538G>T
  hgvsp: ENSP00000333266.3:p.Ala180Ser
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-125G>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
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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
  all individuals: 94
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4.25e1
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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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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala180Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6564
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

3-49850106-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850106
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850106
    reference: chr 3
allele count: 4
allele frequency: 3.3000033000033e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.533C>G
  hgvsp: ENSP00000333266.3:p.Thr178Arg
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-130C>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12157
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
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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
  all individuals: 351
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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
  all individuals: 315
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 651
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr178Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 4
  allele frequency: 2.423361201987156e-4
  allele num: 16506
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

3-49850113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850113
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850113
    reference: chr 3
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.526C>T
  hgvsp: ENSP00000333266.3:p.Pro176Ser
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-137C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 829
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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
  all individuals: 2431
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  variant carriers: 0
hgvs: p.Pro176Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.500600240096038e-5
  allele num: 66640
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

3-49850125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850125
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850125
    reference: chr 3
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.514A>G
  hgvsp: ENSP00000333266.3:p.Thr172Ala
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-149A>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 523
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genotype depth: GenotypeDepth
  all individuals: 2888
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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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr172Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16496
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

3-49850126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850126
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850126
    reference: chr 3
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-150C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.513C>T
  hgvsp: ENST00000333486.3:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5015
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 285
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro171Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6542
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

3-49850129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850129
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850129
    reference: chr 3
allele count: 7
allele frequency: 5.780346820809248e-5
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-153C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.510C>T
  hgvsp: ENST00000333486.3:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29537
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5015
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  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
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp170Asp
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10380
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-49850139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850139
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850139
    reference: chr 3
allele count: 35
allele frequency: 2.892418557757466e-4
allele num: 121006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-163C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.500C>T
  hgvsp: ENSP00000333266.3:p.Thr167Ile
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 320
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
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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: 4
genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 122
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
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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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  bin: 8.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1371
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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: 5021
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 8269
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr167Ile
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6520
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

3-49850141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850141
    reference: chr 3
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-165C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.498C>T
  hgvsp: ENST00000333486.3:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 3.75e1
  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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  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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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe166Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8642
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum

3-49850147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850147
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850147
    reference: chr 3
allele count: 2
allele frequency: 1.655272871732905e-5
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-171G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.492G>A
  hgvsp: ENST00000333486.3:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29360
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu164Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16466
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-49850156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850156
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850156
    reference: chr 3
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-180C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.483C>T
  hgvsp: ENST00000333486.3:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  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: 8025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  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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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp161Asp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11474
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

3-49850157-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850157
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850157
    reference: chr 3
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-181A>C
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.482A>C
  hgvsp: ENSP00000333266.3:p.Asp161Ala
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4970
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 633
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp161Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16418
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-49850170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850170
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850170
    reference: chr 3
allele count: 2
allele frequency: 1.677486454296882e-5
allele num: 119226
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.469C>T
  hgvsp: ENSP00000333266.3:p.Gln157Ter
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-194C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 2.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln157Ter
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10206
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

3-49850171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850171
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850171
    reference: chr 3
allele count: 1
allele frequency: 8.387432271484408e-6
allele num: 119226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.468G>A
  hgvsp: ENST00000333486.3:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-195G>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27062
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
hgvs: c.468G>A
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6408
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-49850176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850176
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850176
    reference: chr 3
allele count: 11
allele frequency: 9.279881217520415e-5
allele num: 118536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-200C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.468-5C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10359
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25880
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
hgvs: c.468-5C>T
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11218
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

3-49850178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850178
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850178
    reference: chr 3
allele count: 1
allele frequency: 8.459091831900928e-6
allele num: 118216
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.468-7A>G
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-202A>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: c.468-7A>G
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.187366421277606e-4
  allele num: 8422
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-49850178-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850178
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850177
    reference: chr 3
allele count: 1
allele frequency: 8.459091831900928e-6
allele num: 118216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-203delC
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.468-8delC
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
hgvs: c.468-8delC
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8422
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-49850205-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850205
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850205
    reference: chr 3
allele count: 1
allele frequency: 8.872484650601555e-6
allele num: 112708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-229A>G
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.468-34A>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6130
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
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site quality: QD
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http://identifiers.org/exac.variant/3-49850208-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850208
    reference: chr 3
allele count: 4
allele frequency: 3.575131386078438e-5
allele num: 111884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-232G>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.468-37G>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7752
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
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site quality: MQ
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3-49850216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850216
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850216
    reference: chr 3
allele count: 2
allele frequency: 1.828320687448578e-5
allele num: 109390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.468-45T>C
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.613-240T>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
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num of homozygotes: 0
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  type: Population
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  allele frequency: 0.0e0
  allele num: 5980
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

3-49850458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850458
    reference: chr 3
allele count: 1
allele frequency: 8.89632226037756e-6
allele num: 112406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+37G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+37G>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 794
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
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3-49850460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850460
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850460
    reference: chr 3
allele count: 1
allele frequency: 8.880363739698778e-6
allele num: 112608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+35C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+35C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
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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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 31525
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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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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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9898
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

3-49850467-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850467
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850467
    reference: chr 3
allele count: 8
allele frequency: 7.111869710546903e-5
allele num: 112488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+28C>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+28C>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
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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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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4.25e1
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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
  all individuals: 530
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genotype quality: GenotypeQuality
  all individuals: 2351
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12812
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

3-49850469-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850469
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850469
    reference: chr 3
allele count: 8
allele frequency: 7.092324331991702e-5
allele num: 112798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+26A>G
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+26A>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
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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
  all individuals: 5
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genotype depth: GenotypeDepth
  all individuals: 12
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1
  allele frequency: 8.946144211844694e-5
  allele num: 11178
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

3-49850472-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850472
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850472
    reference: chr 3
allele count: 1
allele frequency: 8.821920708576671e-6
allele num: 113354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+23C>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+23C>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 7.675775253300584e-5
  allele num: 13028
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

3-49850476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850476
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850476
    reference: chr 3
allele count: 1
allele frequency: 8.748447150630764e-6
allele num: 114306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+19C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+19C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.561134007743225e-5
  allele num: 64056
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

3-49850488-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850488
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850489
    reference: chr 3
allele count: 4
allele frequency: 3.430002229501449e-5
allele num: 116618
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+6dupT
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+6dupT
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
hgvs: c.467+6dupT
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8596
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-49850490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850490
    reference: chr 3
allele count: 2
allele frequency: 1.711654656556493e-5
allele num: 116846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+5G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+5G>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32338
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 44102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
hgvs: c.467+5G>A
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.55860349127182e-4
  allele num: 6416
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-49850493-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850494
    reference: chr 3
allele count: 1
allele frequency: 8.519338899301415e-6
allele num: 117380
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+1dupG
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+1dupG
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1664
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 396
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genotype quality: GenotypeQuality
  all individuals: 1401
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genotype quality: GenotypeQuality
  all individuals: 249
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genotype quality: GenotypeQuality
  all individuals: 314
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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
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
hgvs: c.467+1dupG
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.534825183411609e-5
  allele num: 65154
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

3-49850493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850493
    reference: chr 3
allele count: 12
allele frequency: 1.02232066791617e-4
allele num: 117380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.467+2T>C
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.612+2T>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17890
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32600
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 2.25e1
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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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  bin: 1.25e1
  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
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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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genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
hgvs: c.467+2T>C
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6438
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-49850497-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850497
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850497
    reference: chr 3
allele count: 63
allele frequency: 5.336360094190991e-4
allele num: 118058
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.465G>C
  hgvsp: ENST00000333486.3:c.465G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.610G>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32910
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
hgvs: c.465G>C
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

3-49850499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850499
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850499
    reference: chr 3
allele count: 41
allele frequency: 3.462311472917969e-4
allele num: 118418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.608G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.463G>A
  hgvsp: ENSP00000333266.3:p.Val155Met
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18563
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33078
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 546
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 9.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val155Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8612
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-49850503-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850503
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850503
    reference: chr 3
allele count: 1
allele frequency: 8.390106386548982e-6
allele num: 119188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.459C>G
  hgvsp: ENST00000333486.3:c.459C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.604C>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33590
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 120
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genotype quality: GenotypeQuality
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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly153Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8614
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

3-49850504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850504
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850504
    reference: chr 3
allele count: 1
allele frequency: 8.382510729613734e-6
allele num: 119296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.458G>A
  hgvsp: ENSP00000333266.3:p.Gly153Asp
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.603G>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.25e1
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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
  all individuals: 6384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly153Asp
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8612
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

3-49850507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850507
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850507
    reference: chr 3
allele count: 2
allele frequency: 1.671486118307788e-5
allele num: 119654
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.455G>A
  hgvsp: ENSP00000333266.3:p.Arg152Gln
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.600G>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg152Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6516
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-49850508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850508
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850508
    reference: chr 3
allele count: 2
allele frequency: 1.669727834362999e-5
allele num: 119780
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.454C>T
  hgvsp: ENSP00000333266.3:p.Arg152Trp
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.599C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  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
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
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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: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6482
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genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 247
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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: 527
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  variant carriers: 2
hgvs: p.Arg152Trp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15950
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

3-49850509-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850509
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850509
    reference: chr 3
allele count: 1
allele frequency: 8.337919188887221e-6
allele num: 119934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.598C>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.453C>A
  hgvsp: ENST00000333486.3:c.453C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19294
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47453
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.75e1
  variant carriers: 1
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
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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: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 215
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 142
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
hgvs: p.Thr151Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-49850510-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850510
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850511
    reference: chr 3
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.596dupA
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.451dupA
  hgvsp: ENSP00000333266.3:p.Thr151AsnfsTer11
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
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genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
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genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34039
  bin: 2.25e1
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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
  all individuals: 281
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 192
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genotype quality: GenotypeQuality
  all individuals: 6536
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 250
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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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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: 529
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genotype quality: GenotypeQuality
  all individuals: 214
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47596
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr151AsnfsTer11
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66120
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

3-49850511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850511
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850511
    reference: chr 3
allele count: 2
allele frequency: 1.666555562962469e-5
allele num: 120008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.596A>G
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.451A>G
  hgvsp: ENSP00000333266.3:p.Thr151Ala
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33876
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19421
  bin: 2.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6462
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr151Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11506
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

3-49850518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850518
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850518
    reference: chr 3
allele count: 139
allele frequency: 1.153814227608533e-3
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.589G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.444G>A
  hgvsp: ENST00000333486.3:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 33966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19734
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Ala148Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 7
  allele frequency: 6.773756531836656e-4
  allele num: 10334
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

3-49850519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850519
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850519
    reference: chr 3
allele count: 5
allele frequency: 4.148551325877004e-5
allele num: 120524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.588C>T
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.443C>T
  hgvsp: ENSP00000333266.3:p.Ala148Val
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala148Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.015408738654524e-5
  allele num: 66326
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

3-49850524-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850524
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850524
    reference: chr 3
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.438T>C
  hgvsp: ENST00000333486.3:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.583T>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 219
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genotype quality: GenotypeQuality
  all individuals: 48301
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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: 661
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe146Phe
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS

3-49850535-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850535
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850535
    reference: chr 3
allele count: 3
allele frequency: 2.481964392084188e-5
allele num: 120872
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.427G>C
  hgvsp: ENSP00000333266.3:p.Gly143Arg
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.572G>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly143Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-49850536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850536
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850536
    reference: chr 3
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.571T>C
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.426T>C
  hgvsp: ENST00000333486.3:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48392
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His142His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

3-49850537-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850537
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850537
    reference: chr 3
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.425A>C
  hgvsp: ENSP00000333266.3:p.His142Pro
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.570A>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20085
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His142Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11540
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-49850544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850544
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850544
    reference: chr 3
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.418C>T
  hgvsp: ENSP00000333266.3:p.His140Tyr
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.563C>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His140Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11536
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-49850548-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850548
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850548
    reference: chr 3
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.414G>T
  hgvsp: ENSP00000333266.3:p.Leu138Phe
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.559G>T
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 48115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu138Phe
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11534
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-49850550-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850550
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850550
    reference: chr 3
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.412T>C
  hgvsp: ENST00000333486.3:c.412T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.557T>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu138Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11538
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-49850551-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850551
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850551
    reference: chr 3
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.411C>A
  hgvsp: ENST00000333486.3:c.411C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.556C>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr137Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10366
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

3-49850555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850555
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850555
    reference: chr 3
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.552G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.407G>A
  hgvsp: ENSP00000333266.3:p.Gly136Asp
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 245
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 517
  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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  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
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly136Asp
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

3-49850571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850571
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850571
    reference: chr 3
allele count: 15
allele frequency: 1.240612697257419e-4
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.536G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.391G>A
  hgvsp: ENSP00000333266.3:p.Glu131Lys
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20344
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 475
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
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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genotype quality: GenotypeQuality
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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: 189
  bin: 2.75e1
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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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6590
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu131Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11544
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

3-49850575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850575
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850575
    reference: chr 3
allele count: 3
allele frequency: 2.481964392084188e-5
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.532G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.387G>A
  hgvsp: ENST00000333486.3:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  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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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2.25e1
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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: 5.25e1
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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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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu129Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11544
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-49850590-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850590
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850590
    reference: chr 3
allele count: 2
allele frequency: 1.655958137378287e-5
allele num: 120776
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.372G>C
  hgvsp: ENST00000333486.3:c.372G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.517G>C
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
hgvs: p.Leu124Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10360
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

3-49850602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850602
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850602
    reference: chr 3
allele count: 2
allele frequency: 1.657247974014352e-5
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.361-1G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.506-1G>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.361-1G>A
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6574
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

3-49850613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850613
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850613
    reference: chr 3
allele count: 3
allele frequency: 2.489048187972919e-5
allele num: 120528
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.361-12G>A
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.506-12G>A
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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 (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6574
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-49850617-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49850617
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49850617
    reference: chr 3
allele count: 2
allele frequency: 1.659117681217129e-5
allele num: 120546
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl protein: ENSP00000333266
  ensembl transcript: ENST00000333486
  gene symbol: UBA7
  hgvsc: ENST00000333486.3:c.361-16C>G
  variant of: http://identifiers.org/hgnc/12471
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182179
  ensembl transcript: ENST00000494212
  gene symbol: UBA7
  hgvsc: ENST00000494212.1:n.506-16C>G
  variant of: http://identifiers.org/hgnc/12471
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

DP
type: SiteQuality
SIO_000300: 2.239288e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.129e0

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.372e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.62e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.109e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.429e0

DP
type: SiteQuality
SIO_000300: 2.239104e6

FS
type: SiteQuality
SIO_000300: 6.405e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

FS
type: SiteQuality
SIO_000300: 7.342e0

DP
type: SiteQuality
SIO_000300: 2.239088e6

QD
type: SiteQuality
SIO_000300: 3.339e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: -2.701e0

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.381e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

FS
type: SiteQuality
SIO_000300: 6.014e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 2.238768e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.121e0

QD
type: SiteQuality
SIO_000300: 1.1e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.238667e6

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

FS
type: SiteQuality
SIO_000300: 6.025e0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

DP
type: SiteQuality
SIO_000300: 2.238581e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.958e0

QD
type: SiteQuality
SIO_000300: 1.502e1

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.405e0

FS
type: SiteQuality
SIO_000300: 7.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.237994e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: -6.449e-1

QD
type: SiteQuality
SIO_000300: 8.59e0

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

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

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.479e0

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.83e-1

DP
type: SiteQuality
SIO_000300: 2.237489e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.165e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.249e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

FS
type: SiteQuality
SIO_000300: 7.977e0

DP
type: SiteQuality
SIO_000300: 2.237102e6

QD
type: SiteQuality
SIO_000300: 1.183e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.567e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.237169e6

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.009e0

QD
type: SiteQuality
SIO_000300: 1.167e1

MQ
type: SiteQuality
SIO_000300: 5.91e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 5.95e0

FS
type: SiteQuality
SIO_000300: 4.435e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.287e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.75e-1

DP
type: SiteQuality
SIO_000300: 2.235731e6

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.148e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.587e0

DP
type: SiteQuality
SIO_000300: 2.235218e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.617e0

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.041e0

FS
type: SiteQuality
SIO_000300: 7.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.416e1

DP
type: SiteQuality
SIO_000300: 2.234851e6

VQSLOD
type: SiteQuality
SIO_000300: -2.827e-1

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.234443e6

MQRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.267e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

FS
type: SiteQuality
SIO_000300: 1.2597e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.450258010320413e-4
allele num: 66664
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 2.236183e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.021e0

QD
type: SiteQuality
SIO_000300: 1.234e1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.687e0

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.175e1

DP
type: SiteQuality
SIO_000300: 1.863684e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.862e0

FS
type: SiteQuality
SIO_000300: 9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.862277e6

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

South Asian
type: Population
allele count: 1502
allele frequency: 9.098618851465956e-2
allele num: 16508
num of homozygotes: 77

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

Latino
type: Population
allele count: 6
allele frequency: 5.188516084399862e-4
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.501200192030725e-5
allele num: 66656
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.622516556291391e-3
allele num: 906
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.414e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.870218e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.810000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.550714199975993e-4
allele num: 66648
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.428e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.611e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 1.388e1

DP
type: SiteQuality
SIO_000300: 1.843736e6

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.841239e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

FS
type: SiteQuality
SIO_000300: 2.535e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.462e1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000030000300003e-5
allele num: 66666
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.7776e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

DP
type: SiteQuality
SIO_000300: 1.840816e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.359e1

VQSLOD
type: SiteQuality
SIO_000300: -2.634e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.515e0

FS
type: SiteQuality
SIO_000300: 4.219e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 1.840481e6

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 5.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.488e0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

QD
type: SiteQuality
SIO_000300: 1.116e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.153e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 5.986e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.840388e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.839787e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

FS
type: SiteQuality
SIO_000300: 4.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.3e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.304e0

DP
type: SiteQuality
SIO_000300: 1.838845e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: -3.383e0

FS
type: SiteQuality
SIO_000300: 2.2822e1

QD
type: SiteQuality
SIO_000300: 1.193e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

VQSLOD
type: SiteQuality
SIO_000300: -4.413e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.922e1

FS
type: SiteQuality
SIO_000300: 2.439e0

DP
type: SiteQuality
SIO_000300: 1.836962e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.85e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.859e0

FS
type: SiteQuality
SIO_000300: 4.589e0

VQSLOD
type: SiteQuality
SIO_000300: 8.800000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.683e0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.597e1

DP
type: SiteQuality
SIO_000300: 1.836955e6

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051082615093546e-4
allele num: 66598
num of homozygotes: 1

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e0

DP
type: SiteQuality
SIO_000300: 1.835957e6

FS
type: SiteQuality
SIO_000300: 4.197e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.541e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 1.334e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 35
allele frequency: 4.048114735137636e-3
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.042e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.833387e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

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

Other
type: Population
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Latino
type: Population
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African
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.14e-1

QD
type: SiteQuality
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MQ
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

Other
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allele num: 898
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66460
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African
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allele num: 10350
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
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Latino
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East Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.25e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

East Asian
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allele num: 8614
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6486
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African
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allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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QD
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.817207e6

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.881e1

East Asian
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Latino
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African
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6482
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European (Non-Finnish)
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allele frequency: 1.507749834147518e-5
allele num: 66324
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 1.81551e6

FS
type: SiteQuality
SIO_000300: 7.319e0

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.726e0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523507724184162e-5
allele num: 65638
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Other
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11338
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European (Finnish)
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allele count: 1
allele frequency: 1.560549313358302e-4
allele num: 6408
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East Asian
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South Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.473e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 1.766368e6

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

East Asian
type: Population
allele count: 0
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African
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allele num: 10202
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
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Other
type: Population
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Latino
type: Population
allele count: 0
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South Asian
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.141e0

DP
type: SiteQuality
SIO_000300: 1.765354e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

African
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allele count: 2
allele frequency: 1.96927924379677e-4
allele num: 10156
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Other
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 9
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allele num: 8444
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65268
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.935e0

DP
type: SiteQuality
SIO_000300: 1.733352e6

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.202e1

Latino
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allele count: 0
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allele num: 11180
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African
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allele count: 0
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Other
type: Population
allele count: 0
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allele num: 876
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
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South Asian
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European (Non-Finnish)
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
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SIO_000300: 1.717177e6

FS
type: SiteQuality
SIO_000300: 1.903e0

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

Other
type: Population
allele count: 0
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Latino
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allele count: 0
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allele num: 11180
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African
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South Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6352
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536287101333497e-5
allele num: 65092
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 6.88e0

FS
type: SiteQuality
SIO_000300: 1.903e0

DP
type: SiteQuality
SIO_000300: 1.717177e6

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
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allele count: 0
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East Asian
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allele count: 1
allele frequency: 1.27420998980632e-4
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
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Other
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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Latino
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allele num: 10228
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European (Finnish)
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Other
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European (Non-Finnish)
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African
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South Asian
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BaseQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.033e0

VQSLOD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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African
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Latino
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East Asian
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European (Non-Finnish)
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allele count: 1
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Other
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South Asian
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VQSLOD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

African
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South Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.578880889225717e-5
allele num: 63336
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European (Finnish)
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Latino
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East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.977e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

Latino
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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South Asian
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.788e1

DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 7.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

Latino
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allele count: 7
allele frequency: 6.269030986924592e-4
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European (Non-Finnish)
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African
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allele frequency: 1.018329938900204e-4
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European (Finnish)
type: Population
allele count: 0
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Other
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East Asian
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.351e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

African
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allele count: 7
allele frequency: 7.115267330758284e-4
allele num: 9838
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South Asian
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Other
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European (Finnish)
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allele count: 0
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East Asian
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European (Non-Finnish)
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allele count: 0
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.342889e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 11198
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63684
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

MQRankSum
type: SiteQuality
SIO_000300: -1.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.353391e6

MQ
type: SiteQuality
SIO_000300: 5.829e1

QD
type: SiteQuality
SIO_000300: 3.05e0

FS
type: SiteQuality
SIO_000300: 4.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13342
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
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African
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8538
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VQSLOD
type: SiteQuality
SIO_000300: -3.09e-1

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

DP
type: SiteQuality
SIO_000300: 1.374251e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.611e0

MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.004e1

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.163518136152115e-5
allele num: 64898
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10126
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6402
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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South Asian
type: Population
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allele num: 14364
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VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

FS
type: SiteQuality
SIO_000300: 2.081e0

QD
type: SiteQuality
SIO_000300: 1.523e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.423845e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14448
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Latino
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allele frequency: 0.0e0
allele num: 11410
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.53888769197624e-5
allele num: 64982
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 850
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East Asian
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

FS
type: SiteQuality
SIO_000300: 1.433e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 1.430423e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11408
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
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South Asian
type: Population
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QD
type: SiteQuality
SIO_000300: 1.102e1

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 5.83e-1

DP
type: SiteQuality
SIO_000300: 1.438737e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
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South Asian
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African
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allele count: 11
allele frequency: 1.082251082251082e-3
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534825183411609e-5
allele num: 65154
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DP
type: SiteQuality
SIO_000300: 1.438737e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.102e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.61e-1

FS
type: SiteQuality
SIO_000300: 5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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South Asian
type: Population
allele count: 63
allele frequency: 4.178827275139295e-3
allele num: 15076
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6476
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65388
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African
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 7.573e0

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.451772e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.438e-1

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.121508166692108e-4
allele num: 65510
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.749169144656288e-4
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South Asian
type: Population
allele count: 11
allele frequency: 7.205554827721735e-4
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African
type: Population
allele count: 1
allele frequency: 9.771350400625366e-5
allele num: 10234
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Other
type: Population
allele count: 0
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allele num: 872
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.078e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 2.714e0

QD
type: SiteQuality
SIO_000300: 1.059e1

DP
type: SiteQuality
SIO_000300: 1.458494e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

Latino
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: 6508
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519895431194334e-5
allele num: 65794
num of homozygotes: 0

Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: -9.08e-1

DP
type: SiteQuality
SIO_000300: 1.469453e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.978e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.376e0

African
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allele count: 0
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Other
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allele count: 0
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Latino
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allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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allele num: 65836
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DP
type: SiteQuality
SIO_000300: 1.471924e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.101e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 6.78e0

South Asian
type: Population
allele count: 0
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African
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Other
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515656734062869e-5
allele num: 65978
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East Asian
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allele count: 0
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Latino
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allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
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MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.478489e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.514738404677512e-5
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East Asian
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allele num: 8618
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
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African
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allele frequency: 9.714396735962697e-5
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Latino
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FS
type: SiteQuality
SIO_000300: 2.759e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 1.48062e6

South Asian
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East Asian
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allele frequency: 1.160362032954282e-4
allele num: 8618
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African
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allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66086
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Latino
type: Population
allele count: 0
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allele num: 11502
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 2.836e0

VQSLOD
type: SiteQuality
SIO_000300: -7.654e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

DP
type: SiteQuality
SIO_000300: 1.481477e6

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 7.72e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.699321047526673e-5
allele num: 10310
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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South Asian
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allele count: 0
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East Asian
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 1.482557e6

FS
type: SiteQuality
SIO_000300: 4.123e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.584e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024620410138528e-5
allele num: 66124
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East Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
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South Asian
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allele count: 0
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African
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Other
type: Population
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allele num: 890
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QD
type: SiteQuality
SIO_000300: 9.1e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.484688e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 8.619e0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.576e-1

Other
type: Population
allele count: 0
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allele num: 896
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European (Non-Finnish)
type: Population
allele count: 126
allele frequency: 1.900395161533589e-3
allele num: 66302
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
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European (Finnish)
type: Population
allele count: 6
allele frequency: 9.157509157509158e-4
allele num: 6552
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
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DP
type: SiteQuality
SIO_000300: 1.494647e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 3.402e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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East Asian
type: Population
allele count: 3
allele frequency: 3.474635163307853e-4
allele num: 8634
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.492466e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.278e1

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
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East Asian
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allele frequency: 1.157675387821255e-4
allele num: 8638
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16342
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
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MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.494707e6

QD
type: SiteQuality
SIO_000300: 5.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.496e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.839e1

FS
type: SiteQuality
SIO_000300: 1.378e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
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South Asian
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allele count: 0
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Latino
type: Population
allele count: 0
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allele num: 11544
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African
type: Population
allele count: 2
allele frequency: 1.92975685063682e-4
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
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Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 1.3214e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.497374e6

VQSLOD
type: SiteQuality
SIO_000300: -9.207e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.492e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.598e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
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South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
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African
type: Population
allele count: 0
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allele num: 10364
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VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.088e1

DP
type: SiteQuality
SIO_000300: 1.49727e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.845e0

MQRankSum
type: SiteQuality
SIO_000300: -1.141e0

FS
type: SiteQuality
SIO_000300: 2.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
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allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele num: 10364
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DP
type: SiteQuality
SIO_000300: 1.497391e6

VQSLOD
type: SiteQuality
SIO_000300: -1.646e0

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 5.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

QD
type: SiteQuality
SIO_000300: 4.94e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
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South Asian
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allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.599e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.497841e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 16438
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East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
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African
type: Population
allele count: 0
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allele num: 10366
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

DP
type: SiteQuality
SIO_000300: 1.498007e6

QD
type: SiteQuality
SIO_000300: 1.322e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
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East Asian
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allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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VQSLOD
type: SiteQuality
SIO_000300: -4.98e-2

FS
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.944e1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.031e0

QD
type: SiteQuality
SIO_000300: 9.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.38e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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Latino
type: Population
allele count: 0
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allele num: 11536
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South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -8.59e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

Latino
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
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East Asian
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allele count: 0
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allele num: 8642
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.497904e6

South Asian
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allele count: 0
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African
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allele frequency: 9.643201542912247e-5
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European (Non-Finnish)
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allele count: 14
allele frequency: 2.10608659024581e-4
allele num: 66474
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East Asian
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European (Finnish)
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allele count: 0
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allele num: 6574
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Other
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allele count: 0
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allele num: 900
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.454e0

African
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South Asian
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European (Finnish)
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allele count: 0
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Other
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allele num: 900
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European (Non-Finnish)
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allele count: 3
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allele num: 66458
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East Asian
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

European (Finnish)
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East Asian
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Latino
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South Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

European (Non-Finnish)
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allele count: 2
allele frequency: 3.012683397101799e-5
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num of homozygotes: 0

Latino
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East Asian
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Other
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African
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South Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

DP
type: SiteQuality
SIO_000300: 1.481429e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.816e0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 2.002e0

DP
type: SiteQuality
SIO_000300: 1.476843e6

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.934984520123839e-4
allele num: 10336
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 3.687e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

DP
type: SiteQuality
SIO_000300: 1.476167e6