8-144660315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660315
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660315
    reference: chr 8
allele count: 5
allele frequency: 3.812719231355803e-4
allele num: 13114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.177C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-202C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.174C>T
  hgvsp: ENST00000449291.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.174C>T
  hgvsp: ENST00000340490.3:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.49C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.174C>T
  hgvsp: ENST00000435154.3:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.174C>T
  hgvsp: ENST00000276844.7:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.74C>T
  hgvsp: ENST00000525583.1:c.74C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.174C>T
  hgvsp: ENST00000426292.3:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.14C>T
  hgvsp: ENST00000532645.1:c.14C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala58Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

8-144660315-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660315
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660315
    reference: chr 8
allele count: 1
allele frequency: 7.625438462711606e-5
allele num: 13114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.174C>A
  hgvsp: ENST00000276844.7:c.174C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.174C>A
  hgvsp: ENST00000449291.2:c.174C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.74C>A
  hgvsp: ENST00000525583.1:c.74C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.177C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.174C>A
  hgvsp: ENST00000340490.3:c.174C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-202C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.174C>A
  hgvsp: ENST00000435154.3:c.174C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.49C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.174C>A
  hgvsp: ENST00000426292.3:c.174C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.14C>A
  hgvsp: ENST00000532645.1:c.14C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala58Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-144660318-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660318
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660318
    reference: chr 8
allele count: 1
allele frequency: 7.44490768314473e-5
allele num: 13432
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.171C>G
  hgvsp: ENST00000449291.2:c.171C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-205C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.46C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.11C>G
  hgvsp: ENST00000532645.1:c.11C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.174C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.171C>G
  hgvsp: ENST00000426292.3:c.171C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.171C>G
  hgvsp: ENST00000276844.7:c.171C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.171C>G
  hgvsp: ENST00000435154.3:c.171C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.171C>G
  hgvsp: ENST00000340490.3:c.171C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.71C>G
  hgvsp: ENST00000525583.1:c.71C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15859
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27275
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala57Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-144660318-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660318
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660318
    reference: chr 8
allele count: 92
allele frequency: 6.84931506849315e-3
allele num: 13432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.174C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.171C>A
  hgvsp: ENST00000449291.2:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.171C>A
  hgvsp: ENST00000435154.3:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.171C>A
  hgvsp: ENST00000340490.3:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.171C>A
  hgvsp: ENST00000276844.7:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.171C>A
  hgvsp: ENST00000426292.3:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.11C>A
  hgvsp: ENST00000532645.1:c.11C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.71C>A
  hgvsp: ENST00000525583.1:c.71C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-205C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.46C>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15859
  bin: 7.5e0
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27309
  bin: 2.5e0
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27275
  bin: 7.5e0
  variant carriers: 13
hgvs: p.Ala57Ala
num of homozygotes: 3
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-144660319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660319
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660319
    reference: chr 8
allele count: 86
allele frequency: 6.464221286831029e-3
allele num: 13304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.45C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.10C>T
  hgvsp: ENSP00000433245.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.170C>T
  hgvsp: ENSP00000405670.3:p.Ala57Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.170C>T
  hgvsp: ENSP00000401508.2:p.Ala57Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.170C>T
  hgvsp: ENSP00000341136.3:p.Ala57Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.170C>T
  hgvsp: ENSP00000390949.3:p.Ala57Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.173C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.170C>T
  hgvsp: ENSP00000276844.7:p.Ala57Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.70C>T
  hgvsp: ENSP00000437102.1:p.Ala24Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-206C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27454
  bin: 2.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 1.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15653
  bin: 7.5e0
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 3
hgvs: p.Ala57Val
num of homozygotes: 3
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

8-144660324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660324
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660324
    reference: chr 8
allele count: 1
allele frequency: 7.965588657001752e-5
allele num: 12554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.165C>T
  hgvsp: ENST00000435154.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.168C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-211C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.165C>T
  hgvsp: ENST00000449291.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.165C>T
  hgvsp: ENST00000340490.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.5C>T
  hgvsp: ENST00000532645.1:c.5C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.165C>T
  hgvsp: ENST00000276844.7:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.65C>T
  hgvsp: ENST00000525583.1:c.65C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.165C>T
  hgvsp: ENST00000426292.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.40C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala55Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

8-144660329-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660329
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660329
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 11810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.60T>A
  hgvsp: ENSP00000437102.1:p.Phe21Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.160T>A
  hgvsp: ENSP00000390949.3:p.Phe54Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.163T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.160T>A
  hgvsp: ENSP00000401508.2:p.Phe54Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.160T>A
  hgvsp: ENSP00000341136.3:p.Phe54Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.160T>A
  hgvsp: ENSP00000405670.3:p.Phe54Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.35T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.160T>A
  hgvsp: ENSP00000276844.7:p.Phe54Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-216T>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe54Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

8-144660350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660350
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660350
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 9952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.142C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.139C>T
  hgvsp: ENSP00000341136.3:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.139C>T
  hgvsp: ENSP00000390949.3:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.14C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.139C>T
  hgvsp: ENSP00000276844.7:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.39C>T
  hgvsp: ENSP00000437102.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-237C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.139C>T
  hgvsp: ENSP00000401508.2:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.139C>T
  hgvsp: ENSP00000405670.3:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg47Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

8-144660371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660371
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660371
    reference: chr 8
allele count: 1
allele frequency: 1.071122536418166e-4
allele num: 9336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.121G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.118G>A
  hgvsp: ENSP00000401508.2:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.118G>A
  hgvsp: ENSP00000390949.3:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.118G>A
  hgvsp: ENSP00000405670.3:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.118G>A
  hgvsp: ENSP00000276844.7:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.18G>A
  hgvsp: ENSP00000437102.1:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.118G>A
  hgvsp: ENSP00000341136.3:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-258G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu40Lys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-144660410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660410
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660410
    reference: chr 8
allele count: 1
allele frequency: 1.08038029386344e-4
allele num: 9256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.79T>C
  hgvsp: ENST00000435154.3:c.79T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.82T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.79T>C
  hgvsp: ENST00000276844.7:c.79T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.79T>C
  hgvsp: ENST00000449291.2:c.79T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.79T>C
  hgvsp: ENST00000426292.3:c.79T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-297T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.79T>C
  hgvsp: ENST00000340490.3:c.79T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu27Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-144660412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660412
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660412
    reference: chr 8
allele count: 1
allele frequency: 1.089561996077577e-4
allele num: 9178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.77C>T
  hgvsp: ENSP00000405670.3:p.Ala26Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.77C>T
  hgvsp: ENSP00000401508.2:p.Ala26Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.77C>T
  hgvsp: ENSP00000276844.7:p.Ala26Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.77C>T
  hgvsp: ENSP00000341136.3:p.Ala26Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.77C>T
  hgvsp: ENSP00000390949.3:p.Ala26Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-299C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.80C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala26Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

8-144660422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660422
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660422
    reference: chr 8
allele count: 1
allele frequency: 1.11681929863748e-4
allele num: 8954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.65-309G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.67G>A
  hgvsp: ENSP00000341136.3:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.67G>A
  hgvsp: ENSP00000276844.7:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.67G>A
  hgvsp: ENSP00000401508.2:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.67G>A
  hgvsp: ENSP00000390949.3:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.70G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.67G>A
  hgvsp: ENSP00000405670.3:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala23Thr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

8-144660445-G-GGCCGCGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660445
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660453
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 6568
alternate allele: GGCCGCGCC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.36_43dupGGCGCGGC
  hgvsp: ENSP00000401508.2:p.Pro15ArgfsTer93
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.36_43dupGGCGCGGC
  hgvsp: ENSP00000341136.3:p.Pro15ArgfsTer93
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.39_46dupGGCGCGGC
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.36_43dupGGCGCGGC
  hgvsp: ENSP00000390949.3:p.Pro15ArgfsTer93
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.36_43dupGGCGCGGC
  hgvsp: ENSP00000276844.7:p.Pro15ArgfsTer93
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.36_43dupGGCGCGGC
  hgvsp: ENSP00000405670.3:p.Pro15ArgfsTer93
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro15ArgfsTer93
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

8-144660448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660448
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660448
    reference: chr 8
allele count: 2
allele frequency: 3.938558487593541e-4
allele num: 5078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+308G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.41G>A
  hgvsp: ENSP00000341136.3:p.Arg14Gln
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.41G>A
  hgvsp: ENSP00000276844.7:p.Arg14Gln
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.44G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.41G>A
  hgvsp: ENSP00000401508.2:p.Arg14Gln
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.41G>A
  hgvsp: ENSP00000390949.3:p.Arg14Gln
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.41G>A
  hgvsp: ENSP00000405670.3:p.Arg14Gln
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg14Gln
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

8-144660449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660449
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660449
    reference: chr 8
allele count: 1
allele frequency: 1.984126984126984e-4
allele num: 5040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.40C>T
  hgvsp: ENSP00000276844.7:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+307C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.40C>T
  hgvsp: ENSP00000390949.3:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.40C>T
  hgvsp: ENSP00000401508.2:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.40C>T
  hgvsp: ENSP00000405670.3:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.40C>T
  hgvsp: ENSP00000341136.3:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.43C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg14Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

8-144660451-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660451
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660451
    reference: chr 8
allele count: 7
allele frequency: 1.4e-3
allele num: 5000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.38C>G
  hgvsp: ENSP00000341136.3:p.Ala13Gly
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.38C>G
  hgvsp: ENSP00000405670.3:p.Ala13Gly
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.38C>G
  hgvsp: ENSP00000401508.2:p.Ala13Gly
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.38C>G
  hgvsp: ENSP00000390949.3:p.Ala13Gly
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.38C>G
  hgvsp: ENSP00000276844.7:p.Ala13Gly
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.41C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+305C>G
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala13Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

8-144660454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660454
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660454
    reference: chr 8
allele count: 1
allele frequency: 2.187226596675416e-4
allele num: 4572
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.35C>T
  hgvsp: ENSP00000401508.2:p.Ala12Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.35C>T
  hgvsp: ENSP00000276844.7:p.Ala12Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.35C>T
  hgvsp: ENSP00000341136.3:p.Ala12Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.35C>T
  hgvsp: ENSP00000390949.3:p.Ala12Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.35C>T
  hgvsp: ENSP00000405670.3:p.Ala12Val
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+302C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.38C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala12Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

8-144660469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660469
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660469
    reference: chr 8
allele count: 2
allele frequency: 8.525149190110827e-4
allele num: 2346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.20C>T
  hgvsp: ENSP00000405670.3:p.Pro7Leu
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.20C>T
  hgvsp: ENSP00000341136.3:p.Pro7Leu
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.20C>T
  hgvsp: ENSP00000390949.3:p.Pro7Leu
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.20C>T
  hgvsp: ENSP00000276844.7:p.Pro7Leu
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.20C>T
  hgvsp: ENSP00000401508.2:p.Pro7Leu
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+287C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.23C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5054
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro7Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144660511-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660511
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660512
    reference: chr 8
allele count: 4
allele frequency: 6.060606060606061e-2
allele num: 66
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.-24dupC
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+244dupC
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.-24dupC
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-24dupC
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-144660512-GCCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660512
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660508
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 60
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+240_64+243delGGGG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-28_-25delGGGG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: GCCCC
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

8-144660513-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660513
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660513
    reference: chr 8
allele count: 1
allele frequency: 1.612903225806452e-2
allele num: 62
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.-25G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+243G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-25G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.-25G>C
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.5e0
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

8-144660513-C-CCCGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660513
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660517
    reference: chr 8
allele count: 4
allele frequency: 6.451612903225806e-2
allele num: 62
alternate allele: CCCGA
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-26_-25insTCGG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+242_64+243insTCGG
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

8-144660515-CCGCCCCGACCCCGTGACG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660515
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660497
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 60
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 32
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: CCGCCCCGACCCCGTGACG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

8-144660516-C-CGACCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660516
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660521
    reference: chr 8
allele count: 1
allele frequency: 1.515151515151515e-2
allele num: 66
alternate allele: CGACCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+239_64+240insAGGTC
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-29_-28insAGGTC
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

8-144660517-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660517
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660516
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 54
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-30delG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+238delG
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  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
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: GC
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-144660518-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660518
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660518
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 54
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-30G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+238G>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
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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: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/8-144660523-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660523
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660523
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 52
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+233T>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-35T>G
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 61
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genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-144660523-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660523
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660523
    reference: chr 8
allele count: 52
allele frequency: 1.0e0
allele num: 52
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-35T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+233T>C
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.5e0
  variant carriers: 1018
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.25e1
  variant carriers: 357
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.5e0
  variant carriers: 631
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 26
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.0e0
  allele num: 2
  num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

8-144660525-CCCGTGACG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660525
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660517
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 36
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-45_-38delCGTCACGG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: CCCGTGACG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/8-144660534-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660534
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660534
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 30
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+222G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-46G>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

8-144660534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144660534
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144660534
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 30
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.64+222G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.-46G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 22
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

8-144661905-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661905
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661903
    reference: chr 8
allele count: 47
allele frequency: 4.246476328153235e-4
allele num: 110680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*413_*414delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.101_102delCA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*413_*414delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*48_*49delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3709_3710delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*55_*56delTG
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: TCA
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-144661906-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661906
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661907
    reference: chr 8
allele count: 629
allele frequency: 5.686338323569827e-3
allele num: 110616
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3709dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*413dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*48dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*413dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.102dupA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*55dupT
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 4.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
num of homozygotes: 20
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

8-144661909-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661909
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661909
    reference: chr 8
allele count: 1
allele frequency: 9.03326046503225e-6
allele num: 110702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3707A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*411A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.104T>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*411A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*53A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

8-144661909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661909
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661909
    reference: chr 8
allele count: 1
allele frequency: 9.03326046503225e-6
allele num: 110702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3707A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*411A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*411A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.104T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-144661910-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661910
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661911
    reference: chr 8
allele count: 1
allele frequency: 9.033097268391387e-6
allele num: 110704
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*409dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.108dupT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*51dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*44dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*409dupA
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3705dupA
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-144661916-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661916
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661916
    reference: chr 8
allele count: 5
allele frequency: 4.516793438002493e-5
allele num: 110698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*39A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*404A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*404A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.111T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3700A>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

8-144661917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661917
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661917
    reference: chr 8
allele count: 5
allele frequency: 4.517772918662016e-5
allele num: 110674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*38G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.112C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*403G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*403G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3699G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

8-144661918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661918
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661918
    reference: chr 8
allele count: 2
allele frequency: 1.807011203469462e-5
allele num: 110680
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.113G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*402C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3698C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*402C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

8-144661920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661920
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661920
    reference: chr 8
allele count: 2
allele frequency: 1.807239802649413e-5
allele num: 110666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*400C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3696C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*400C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.115G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-144661932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661932
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661932
    reference: chr 8
allele count: 3
allele frequency: 2.708607956084436e-5
allele num: 110758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.127C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*388G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*388G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3684G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

8-144661933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661933
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661933
    reference: chr 8
allele count: 3
allele frequency: 2.708167834187911e-5
allele num: 110776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.128G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*387C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*387C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3683C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*22C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*29C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

8-144661936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661936
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661936
    reference: chr 8
allele count: 5
allele frequency: 4.511413877109086e-5
allele num: 110830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*384G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.131C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3680G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*384G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*26G>A
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-144661937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661937
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661937
    reference: chr 8
allele count: 3
allele frequency: 2.705969368426749e-5
allele num: 110866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.132G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*383C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*383C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3679C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-144661938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661938
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661938
    reference: chr 8
allele count: 4
allele frequency: 3.607763907929865e-5
allele num: 110872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3678G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*382G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.133C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*382G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

8-144661939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661939
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661939
    reference: chr 8
allele count: 2
allele frequency: 1.803263907672888e-5
allele num: 110910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*381C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*381C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.134G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3677C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

8-144661940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661940
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661940
    reference: chr 8
allele count: 23
allele frequency: 2.073192716783847e-4
allele num: 110940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.135C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*380G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3676G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*22G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*380G>A
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

8-144661941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661941
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661941
    reference: chr 8
allele count: 1
allele frequency: 9.012419113538457e-6
allele num: 110958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.136G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*379C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*379C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3675C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*21C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

8-144661943-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661943
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661943
    reference: chr 8
allele count: 4
allele frequency: 3.60366853456819e-5
allele num: 110998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*377T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*12T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3673T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*19T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*377T>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.138A>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

8-144661944-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661944
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661944
    reference: chr 8
allele count: 1
allele frequency: 9.007710600273834e-6
allele num: 111016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*376G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.139C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*376G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3672G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*11G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

8-144661944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661944
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661944
    reference: chr 8
allele count: 4
allele frequency: 3.603084240109534e-5
allele num: 111016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*376G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.139C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3672G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*376G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

8-144661953-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661953
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661951
    reference: chr 8
allele count: 1
allele frequency: 8.989572096368214e-6
allele num: 111240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*365_*366delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.300_*1delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3661_3662delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*365_*366delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.150_151delTC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/3211
canonical: false
consequence: coding sequence
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: ACT
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-144661956-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661956
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661956
    reference: chr 8
allele count: 1
allele frequency: 8.983273145403258e-6
allele num: 111318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3660G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*364G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.299G>T
  hgvsp: ENSP00000433784.1:p.Ter100LeuextTer?
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.151C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*364G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*6G>T
  variant of: http://identifiers.org/hgnc/3211
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter100LeuextTer?
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

8-144661956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661956
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661956
    reference: chr 8
allele count: 1
allele frequency: 8.983273145403258e-6
allele num: 111318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.299G>A
  hgvsp: ENST00000532400.1:c.299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*364G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*364G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3660G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.151C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*6G>A
  variant of: http://identifiers.org/hgnc/3211
canonical: false
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter100Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

8-144661957-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661957
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661957
    reference: chr 8
allele count: 4
allele frequency: 3.592663780560096e-5
allele num: 111338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3659T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*363T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.298T>C
  hgvsp: ENSP00000433784.1:p.Ter100ArgextTer?
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*363T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.*5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.152A>G
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter100ArgextTer?
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

8-144661965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661965
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661965
    reference: chr 8
allele count: 5
allele frequency: 4.487685790191714e-5
allele num: 111416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.290C>T
  hgvsp: ENSP00000433784.1:p.Ser97Phe
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.843C>T
  hgvsp: ENST00000317198.6:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.843C>T
  hgvsp: ENST00000395119.3:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.843C>T
  hgvsp: ENST00000529272.1:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1941C>T
  hgvsp: ENST00000442189.2:c.1941C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.786C>T
  hgvsp: ENST00000526838.1:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.714C>T
  hgvsp: ENST00000531621.1:c.714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2091C>T
  hgvsp: ENST00000532741.1:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.466C>T
  hgvsp: ENST00000530109.1:c.466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3651C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.843C>T
  hgvsp: ENST00000419152.2:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.771C>T
  hgvsp: ENST00000524624.1:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.771C>T
  hgvsp: ENST00000528610.1:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1941C>T
  hgvsp: ENST00000423316.2:c.1941C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*355C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.160G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.357C>T
  hgvsp: ENST00000529576.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*355C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser97Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

8-144661968-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661968
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661968
    reference: chr 8
allele count: 1
allele frequency: 8.976016085020824e-6
allele num: 111408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1938G>C
  hgvsp: ENSP00000391944.2:p.Lys646Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.768G>C
  hgvsp: ENSP00000431763.1:p.Lys256Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.840G>C
  hgvsp: ENSP00000388261.2:p.Lys280Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.840G>C
  hgvsp: ENSP00000434872.1:p.Lys280Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.768G>C
  hgvsp: ENSP00000435697.1:p.Lys256Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.163C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3648G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.840G>C
  hgvsp: ENSP00000317399.6:p.Lys280Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.463G>C
  hgvsp: ENSP00000435117.1:p.Lys155Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.840G>C
  hgvsp: ENSP00000378551.3:p.Lys280Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.711G>C
  hgvsp: ENSP00000432429.1:p.Lys237Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1938G>C
  hgvsp: ENSP00000410059.2:p.Lys646Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2088G>C
  hgvsp: ENSP00000434070.1:p.Lys696Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.287G>C
  hgvsp: ENSP00000433784.1:p.Arg96Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*352G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.783G>C
  hgvsp: ENSP00000436507.1:p.Lys261Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.354G>C
  hgvsp: ENSP00000435015.1:p.Lys118Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*352G>C
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys646Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

8-144661981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661981
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661981
    reference: chr 8
allele count: 2
allele frequency: 1.793303803597368e-5
allele num: 111526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.755C>T
  hgvsp: ENSP00000431763.1:p.Ala252Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.827C>T
  hgvsp: ENSP00000378551.3:p.Ala276Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.827C>T
  hgvsp: ENSP00000388261.2:p.Ala276Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*339C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2075C>T
  hgvsp: ENSP00000434070.1:p.Ala692Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.770C>T
  hgvsp: ENSP00000436507.1:p.Ala257Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.341C>T
  hgvsp: ENSP00000435015.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.827C>T
  hgvsp: ENSP00000434872.1:p.Ala276Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.274C>T
  hgvsp: ENSP00000433784.1:p.Gln92Ter
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.450C>T
  hgvsp: ENSP00000435117.1:p.Ala151Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1925C>T
  hgvsp: ENSP00000391944.2:p.Ala642Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1925C>T
  hgvsp: ENSP00000410059.2:p.Ala642Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.698C>T
  hgvsp: ENSP00000432429.1:p.Ala233Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.755C>T
  hgvsp: ENSP00000435697.1:p.Ala252Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.827C>T
  hgvsp: ENSP00000317399.6:p.Ala276Val
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*339C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.176G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3635C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln92Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

8-144661982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661982
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661982
    reference: chr 8
allele count: 13
allele frequency: 1.165626569112689e-4
allele num: 111528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*338G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2074G>A
  hgvsp: ENSP00000434070.1:p.Ala692Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.449G>A
  hgvsp: ENSP00000435117.1:p.Ala151Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.826G>A
  hgvsp: ENSP00000388261.2:p.Ala276Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.754G>A
  hgvsp: ENSP00000431763.1:p.Ala252Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.177C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1924G>A
  hgvsp: ENSP00000391944.2:p.Ala642Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.826G>A
  hgvsp: ENSP00000378551.3:p.Ala276Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*338G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1924G>A
  hgvsp: ENSP00000410059.2:p.Ala642Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.826G>A
  hgvsp: ENSP00000434872.1:p.Ala276Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.340G>A
  hgvsp: ENSP00000435015.1:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.769G>A
  hgvsp: ENSP00000436507.1:p.Ala257Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3634G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.826G>A
  hgvsp: ENSP00000317399.6:p.Ala276Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.697G>A
  hgvsp: ENSP00000432429.1:p.Ala233Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.754G>A
  hgvsp: ENSP00000435697.1:p.Ala252Thr
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.273G>A
  hgvsp: ENST00000532400.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala642Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

8-144661983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661983
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661983
    reference: chr 8
allele count: 1
allele frequency: 8.963625607285635e-6
allele num: 111562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.825C>T
  hgvsp: ENST00000395119.3:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.272C>T
  hgvsp: ENSP00000433784.1:p.Ser91Leu
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1923C>T
  hgvsp: ENST00000442189.2:c.1923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.753C>T
  hgvsp: ENST00000524624.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.753C>T
  hgvsp: ENST00000528610.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1923C>T
  hgvsp: ENST00000423316.2:c.1923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3633C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*337C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.768C>T
  hgvsp: ENST00000526838.1:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.448C>T
  hgvsp: ENST00000530109.1:c.448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.696C>T
  hgvsp: ENST00000531621.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.339C>T
  hgvsp: ENST00000529576.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.825C>T
  hgvsp: ENST00000317198.6:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.178G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.825C>T
  hgvsp: ENST00000419152.2:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.825C>T
  hgvsp: ENST00000529272.1:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2073C>T
  hgvsp: ENST00000532741.1:c.2073C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*337C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser91Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

8-144661988-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661988
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661988
    reference: chr 8
allele count: 1
allele frequency: 8.964429145152036e-6
allele num: 111552
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1918G>C
  hgvsp: ENSP00000410059.2:p.Asp640His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.820G>C
  hgvsp: ENSP00000378551.3:p.Asp274His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1918G>C
  hgvsp: ENSP00000391944.2:p.Asp640His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.334G>C
  hgvsp: ENSP00000435015.1:p.Asp112His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.820G>C
  hgvsp: ENSP00000388261.2:p.Asp274His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.748G>C
  hgvsp: ENSP00000431763.1:p.Asp250His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.691G>C
  hgvsp: ENSP00000432429.1:p.Asp231His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.763G>C
  hgvsp: ENSP00000436507.1:p.Asp255His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2068G>C
  hgvsp: ENSP00000434070.1:p.Asp690His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.443G>C
  hgvsp: ENSP00000435117.1:p.Asp149His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.820G>C
  hgvsp: ENSP00000434872.1:p.Asp274His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.183C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.748G>C
  hgvsp: ENSP00000435697.1:p.Asp250His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*332G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.267G>C
  hgvsp: ENST00000532400.1:c.267G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3628G>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.820G>C
  hgvsp: ENSP00000317399.6:p.Asp274His
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*332G>C
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp640His
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-144661988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661988
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661988
    reference: chr 8
allele count: 1
allele frequency: 8.964429145152036e-6
allele num: 111552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.334G>A
  hgvsp: ENSP00000435015.1:p.Asp112Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.820G>A
  hgvsp: ENSP00000317399.6:p.Asp274Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*332G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.763G>A
  hgvsp: ENSP00000436507.1:p.Asp255Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.748G>A
  hgvsp: ENSP00000435697.1:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*332G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.748G>A
  hgvsp: ENSP00000431763.1:p.Asp250Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.820G>A
  hgvsp: ENSP00000378551.3:p.Asp274Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.183C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.443G>A
  hgvsp: ENSP00000435117.1:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.820G>A
  hgvsp: ENSP00000434872.1:p.Asp274Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1918G>A
  hgvsp: ENSP00000391944.2:p.Asp640Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.820G>A
  hgvsp: ENSP00000388261.2:p.Asp274Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.267G>A
  hgvsp: ENST00000532400.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1918G>A
  hgvsp: ENSP00000410059.2:p.Asp640Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.691G>A
  hgvsp: ENSP00000432429.1:p.Asp231Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2068G>A
  hgvsp: ENSP00000434070.1:p.Asp690Asn
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3628G>A
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp640Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-144661999-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144661999
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144661999
    reference: chr 8
allele count: 1
allele frequency: 8.965072079179517e-6
allele num: 111544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2057T>C
  hgvsp: ENSP00000434070.1:p.Val686Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3617T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.737T>C
  hgvsp: ENSP00000435697.1:p.Val246Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.432T>C
  hgvsp: ENSP00000435117.1:p.Val145Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.809T>C
  hgvsp: ENSP00000434872.1:p.Val270Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1907T>C
  hgvsp: ENSP00000391944.2:p.Val636Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*321T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.680T>C
  hgvsp: ENSP00000432429.1:p.Val227Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.737T>C
  hgvsp: ENSP00000431763.1:p.Val246Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.809T>C
  hgvsp: ENSP00000317399.6:p.Val270Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.752T>C
  hgvsp: ENSP00000436507.1:p.Val251Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.809T>C
  hgvsp: ENSP00000378551.3:p.Val270Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.328-5T>C
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1907T>C
  hgvsp: ENSP00000410059.2:p.Val636Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.194A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.809T>C
  hgvsp: ENSP00000388261.2:p.Val270Ala
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.256T>C
  hgvsp: ENSP00000433784.1:p.Cys86Arg
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*321T>C
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val636Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

8-144662006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144662006
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144662006
    reference: chr 8
allele count: 1
allele frequency: 8.971506495370702e-6
allele num: 111464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.808-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.751-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.808-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*320-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1906-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.255-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.201G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.431-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.808-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*320-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3616-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.736-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.679-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.328-12C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.736-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2056-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.808-6C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1906-6C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1906-6C>T
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

8-144662008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144662008
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144662008
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 111402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.679-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.203G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.808-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2056-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1906-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.736-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.328-14C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1906-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.431-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*320-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.736-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.808-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.751-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3616-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.255-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.808-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.808-8C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*320-8C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1906-8C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

8-144662012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144662012
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144662012
    reference: chr 8
allele count: 1
allele frequency: 8.993938085730218e-6
allele num: 111186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.808-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.679-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1906-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.736-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.751-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.808-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*320-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*320-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.808-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.431-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.207C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.736-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.328-18G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2056-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3616-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.808-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1906-12G>A
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.255-12G>A
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

8-144662013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144662013
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144662013
    reference: chr 8
allele count: 74
allele frequency: 6.653479590001798e-4
allele num: 111220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432429
  ensembl transcript: ENST00000531621
  gene symbol: EEF1D
  hgvsc: ENST00000531621.1:c.679-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000410059
  ensembl transcript: ENST00000423316
  gene symbol: EEF1D
  hgvsc: ENST00000423316.2:c.1906-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000391944
  ensembl transcript: ENST00000442189
  gene symbol: EEF1D
  hgvsc: ENST00000442189.2:c.1906-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435015
  ensembl transcript: ENST00000529576
  gene symbol: EEF1D
  hgvsc: ENST00000529576.1:c.328-19C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000378551
  ensembl transcript: ENST00000395119
  gene symbol: EEF1D
  hgvsc: ENST00000395119.3:c.808-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436045
  ensembl transcript: ENST00000529007
  gene symbol: EEF1D
  hgvsc: ENST00000529007.1:c.*320-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000432881
  ensembl transcript: ENST00000533833
  gene symbol: EEF1D
  hgvsc: ENST00000533833.1:c.*320-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000433784
  ensembl transcript: ENST00000532400
  gene symbol: EEF1D
  hgvsc: ENST00000532400.1:c.255-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434070
  ensembl transcript: ENST00000532741
  gene symbol: EEF1D
  hgvsc: ENST00000532741.1:c.2056-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000388261
  ensembl transcript: ENST00000419152
  gene symbol: EEF1D
  hgvsc: ENST00000419152.2:c.808-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435117
  ensembl transcript: ENST00000530109
  gene symbol: EEF1D
  hgvsc: ENST00000530109.1:c.431-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254741
  ensembl transcript: ENST00000529247
  gene symbol: RP11-661A12.7
  hgvsc: ENST00000529247.1:n.208G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000434872
  ensembl transcript: ENST00000529272
  gene symbol: EEF1D
  hgvsc: ENST00000529272.1:c.808-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000435697
  ensembl transcript: ENST00000524624
  gene symbol: EEF1D
  hgvsc: ENST00000524624.1:c.736-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000431763
  ensembl transcript: ENST00000528610
  gene symbol: EEF1D
  hgvsc: ENST00000528610.1:c.736-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl transcript: ENST00000527741
  gene symbol: EEF1D
  hgvsc: ENST00000527741.1:n.3616-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000436507
  ensembl transcript: ENST00000526838
  gene symbol: EEF1D
  hgvsc: ENST00000526838.1:c.751-13C>T
  variant of: http://identifiers.org/hgnc/3211
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104529
  ensembl protein: ENSP00000317399
  ensembl transcript: ENST00000317198
  gene symbol: EEF1D
  hgvsc: ENST00000317198.6:c.808-13C>T
  variant of: http://identifiers.org/hgnc/3211
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
reference allele: G

GenotypeQuality
all individuals: 27003
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14171
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 8.188666885031117e-4
allele num: 6106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.128e0

QD
type: SiteQuality
SIO_000300: 1.257e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.87e-2

DP
type: SiteQuality
SIO_000300: 3.03799e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27003
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14171
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.893222264293828e-4
allele num: 5282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.87e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 3.03799e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

GenotypeQuality
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15208
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.67379679144385e-3
allele num: 374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5412
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 2.008e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 3.06347e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 226
bin: 6.75e1
variant carriers: 9

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

GenotypeQuality
all individuals: 261
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1083
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3082
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1106
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 42
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 13
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 15208
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 793
bin: 1.25e1
variant carriers: 11

GenotypeQuality
all individuals: 200
bin: 9.75e1
variant carriers: 198

South Asian
type: Population
allele count: 1
allele frequency: 1.609787508048938e-4
allele num: 6212
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.871657754010695e-2
allele num: 374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

African
type: Population
allele count: 83
allele frequency: 1.296875e-1
allele num: 640
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.847745750184775e-4
allele num: 5412
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 3.06347e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 2.008e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-2

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

GenotypeQuality
all individuals: 765
bin: 1.25e1
variant carriers: 11

GenotypeQuality
all individuals: 226
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 14991
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3072
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1171
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 198

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 46
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variant carriers: 1

GenotypeQuality
all individuals: 27432
bin: 7.5e0
variant carriers: 13

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 999
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variant carriers: 4

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 44
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 36
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variant carriers: 4

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 7

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

African
type: Population
allele count: 78
allele frequency: 1.234177215189873e-1
allele num: 632
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.604106512672441e-4
allele num: 6234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.8910741301059e-4
allele num: 5288
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.639344262295082e-2
allele num: 366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 2.047e1

DP
type: SiteQuality
SIO_000300: 3.04774e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 123
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 28704
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
all individuals: 699
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 933
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.100840336134454e-4
allele num: 4760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.562e1

VQSLOD
type: SiteQuality
SIO_000300: -1.215e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-2

DP
type: SiteQuality
SIO_000300: 2.85573e5

GenotypeQuality
all individuals: 29154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 934
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 72
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 653
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variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 10769
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.406e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.70051e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 3379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 28771
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GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 376
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variant carriers: 0

GenotypeQuality
all individuals: 163
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variant carriers: 1

GenotypeQuality
all individuals: 1501
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GenotypeQuality
all individuals: 530
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variant carriers: 0

GenotypeQuality
all individuals: 4434
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variant carriers: 0

GenotypeQuality
all individuals: 66
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GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 5
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.099e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 2.17291e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.066e0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 221
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GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 159
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GenotypeQuality
all individuals: 284
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GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 19014
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GenotypeQuality
all individuals: 3471
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GenotypeQuality
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.374453193350831e-4
allele num: 2286
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.66754e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.141e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.18e0

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
all individuals: 266
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 1362
bin: 2.25e1
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GenotypeQuality
all individuals: 8782
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GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 3485
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 35
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.525785779676533e-4
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.206e0

QD
type: SiteQuality
SIO_000300: 1.78e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.21e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.27407e5

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 250
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.574565416285453e-4
allele num: 2186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.11e-2

FS
type: SiteQuality
SIO_000300: 2.808e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.16e-1

DP
type: SiteQuality
SIO_000300: 1.24411e5

GenotypeQuality
all individuals: 23
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 7122
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 128
bin: 2.75e1
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GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 579
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GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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Other
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African
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.690431519699812e-4
allele num: 2132
num of homozygotes: 0

FS
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 0
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South Asian
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DP
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QD
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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European (Finnish)
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Other
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East Asian
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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FS
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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South Asian
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allele frequency: 1.940133037694013e-3
allele num: 3608
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European (Finnish)
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allele frequency: NaN
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Other
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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Latino
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South Asian
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InbreedingCoeff
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FS
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DP
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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South Asian
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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Other
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South Asian
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MQRankSum
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FS
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MQ
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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East Asian
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VQSLOD
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DP
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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South Asian
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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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DP
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FS
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MQ
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East Asian
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Latino
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European (Finnish)
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Other
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African
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -7.35e-2

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.64e0

South Asian
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allele frequency: 3.846153846153846e-2
allele num: 26
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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allele frequency: NaN
allele num: 0
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.1763e4

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

FS
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QD
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.1584e4

VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -5.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

Other
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
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South Asian
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allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
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MQ
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SIO_000300: 5.06e1

InbreedingCoeff
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SIO_000300: -4.91e-2

ReadPosRankSum
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SIO_000300: -1.372e0

ClippingRankSum
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BaseQRankSum
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QD
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SIO_000300: 2.466e1

DP
type: SiteQuality
SIO_000300: 1.1482e4

East Asian
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allele num: 0
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 2
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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allele num: 0
num of homozygotes: 0

South Asian
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
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FS
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SIO_000300: 0.0e0

DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 32
allele frequency: 1.0e0
allele num: 32
num of homozygotes: 16

South Asian
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allele frequency: 1.0e0
allele num: 16
num of homozygotes: 8

African
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allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

Other
type: Population
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.348e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 3.252e1

InbreedingCoeff
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SIO_000300: 6.83e-2

ClippingRankSum
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

DP
type: SiteQuality
SIO_000300: 1.1539e4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 8.04e-1

VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
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SIO_000300: 3.9e1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 8.04e-1

InbreedingCoeff
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SIO_000300: -4.54e-2

DP
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SIO_000300: 1.0574e4

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
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allele frequency: NaN
allele num: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

South Asian
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.0429e4

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 7.11e-2

QD
type: SiteQuality
SIO_000300: 2.908e1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4
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Other
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allele frequency: NaN
allele num: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2
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East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.0429e4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.908e1

InbreedingCoeff
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SIO_000300: 7.11e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

GenotypeDepth
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bin: 8.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 48

GenotypeQuality
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African
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allele count: 10
allele frequency: 9.83477576711251e-4
allele num: 10168
num of homozygotes: 0

Other
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allele frequency: 3.787878787878788e-3
allele num: 792
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
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allele count: 29
allele frequency: 4.534367377572081e-4
allele num: 63956
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 3.288031565103025e-4
allele num: 9124
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.46e-1

DP
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SIO_000300: 3.627096e6

MQ
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SIO_000300: 6.013e1

VQSLOD
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QD
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SIO_000300: 1.796e1

InbreedingCoeff
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SIO_000300: 2.6e-3

MQRankSum
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SIO_000300: 8.66e-1

ReadPosRankSum
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SIO_000300: -1.14e-1

ClippingRankSum
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BaseQRankSum
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SIO_000300: 5.77e-1

GenotypeDepth
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variant carriers: 13

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 16

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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GenotypeDepth
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variant carriers: 407

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 607

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 606
allele frequency: 5.949342234439427e-2
allele num: 10186
num of homozygotes: 20

Latino
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allele count: 18
allele frequency: 1.56794425087108e-3
allele num: 11480
num of homozygotes: 0

South Asian
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allele frequency: 1.097213078779899e-4
allele num: 9114
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.695129585576562e-5
allele num: 63896
num of homozygotes: 0

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

Other
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allele count: 1
allele frequency: 1.272264631043257e-3
allele num: 786
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8542
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FS
type: SiteQuality
SIO_000300: 6.62e-1

InbreedingCoeff
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MQ
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SIO_000300: 5.994e1

BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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SIO_000300: 3.619525e6

VQSLOD
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GenotypeDepth
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variant carriers: 0

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

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

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

African
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 3.127443315089914e-5
allele num: 63950
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Other
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Latino
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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VQSLOD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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QD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 2

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

European (Non-Finnish)
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allele num: 63976
num of homozygotes: 0

South Asian
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Other
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Latino
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allele num: 11486
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African
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num of homozygotes: 0

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

East Asian
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ClippingRankSum
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SIO_000300: -5.75e-1

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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FS
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BaseQRankSum
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VQSLOD
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QD
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MQ
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SIO_000300: 5.953e1

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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SIO_000300: 3.578599e6

ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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South Asian
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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Latino
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African
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European (Non-Finnish)
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DP
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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FS
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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African
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Other
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South Asian
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European (Finnish)
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ReadPosRankSum
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FS
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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Other
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South Asian
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East Asian
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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South Asian
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Other
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South Asian
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European (Finnish)
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Latino
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East Asian
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DP
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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QD
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DP
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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FS
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 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: 9534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63974
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.177e0

DP
type: SiteQuality
SIO_000300: 3.572385e6

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 1.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

GenotypeDepth
all individuals: 1755
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 671
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5427
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 154
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3091
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2497
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3279
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5294
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4712
bin: 9.75e1
variant carriers: 43

GenotypeDepth
all individuals: 4883
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 647
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2423
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4996
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1848
bin: 3.25e1
variant carriers: 2