8-144659249-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659249
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659249
    reference: chr 8
allele count: 2
allele frequency: 1.696237744682295e-5
allele num: 117908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.667G>C
  hgvsp: ENSP00000405670.3:p.Glu223Gln
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.505G>C
  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.667G>C
  hgvsp: ENSP00000390949.3:p.Glu223Gln
  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.667G>C
  hgvsp: ENSP00000276844.7:p.Glu223Gln
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+190G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.855C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.667G>C
  hgvsp: ENSP00000341136.3:p.Glu223Gln
  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.633G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+190G>C
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.489G>C
  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.667G>C
  hgvsp: ENSP00000401508.2:p.Glu223Gln
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu223Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

8-144659249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659249
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659249
    reference: chr 8
allele count: 3
allele frequency: 2.544356617023442e-5
allele num: 117908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.489G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.855C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.667G>A
  hgvsp: ENSP00000341136.3:p.Glu223Lys
  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.667G>A
  hgvsp: ENSP00000390949.3:p.Glu223Lys
  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.667G>A
  hgvsp: ENSP00000276844.7:p.Glu223Lys
  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.667G>A
  hgvsp: ENSP00000401508.2:p.Glu223Lys
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.505G>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.633G>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.667G>A
  hgvsp: ENSP00000405670.3:p.Glu223Lys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+190G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+190G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu223Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-144659251-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659251
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659251
    reference: chr 8
allele count: 1
allele frequency: 8.475007203756124e-6
allele num: 117994
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.665G>T
  hgvsp: ENSP00000405670.3:p.Ser222Ile
  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.665G>T
  hgvsp: ENSP00000401508.2:p.Ser222Ile
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.487G>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.665G>T
  hgvsp: ENSP00000341136.3:p.Ser222Ile
  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.665G>T
  hgvsp: ENSP00000276844.7:p.Ser222Ile
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.503G>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.665G>T
  hgvsp: ENSP00000390949.3:p.Ser222Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+188G>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.631G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+188G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.857C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser222Ile
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-144659251-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659251
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659251
    reference: chr 8
allele count: 1
allele frequency: 8.475007203756124e-6
allele num: 117994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.487G>C
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.503G>C
  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.665G>C
  hgvsp: ENSP00000276844.7:p.Ser222Thr
  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.665G>C
  hgvsp: ENSP00000341136.3:p.Ser222Thr
  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.665G>C
  hgvsp: ENSP00000390949.3:p.Ser222Thr
  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.665G>C
  hgvsp: ENSP00000405670.3:p.Ser222Thr
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+188G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.857C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.665G>C
  hgvsp: ENSP00000401508.2:p.Ser222Thr
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+188G>C
  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.631G>C
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser222Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-144659254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659254
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659254
    reference: chr 8
allele count: 4
allele frequency: 3.3889114816321e-5
allele num: 118032
alternate allele: T
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.628G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+185G>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.662G>A
  hgvsp: ENSP00000341136.3:p.Gly221Asp
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.484G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+185G>A
  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.662G>A
  hgvsp: ENSP00000390949.3:p.Gly221Asp
  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.662G>A
  hgvsp: ENSP00000276844.7:p.Gly221Asp
  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.662G>A
  hgvsp: ENSP00000405670.3:p.Gly221Asp
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.860C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.662G>A
  hgvsp: ENSP00000401508.2:p.Gly221Asp
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.500G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27084
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly221Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-144659262-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659262
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659262
    reference: chr 8
allele count: 7
allele frequency: 5.931198102016607e-5
allele num: 118020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.476C>G
  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.654C>G
  hgvsp: ENST00000435154.3:c.654C>G(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.654C>G
  hgvsp: ENST00000449291.2:c.654C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.868G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.492C>G
  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.654C>G
  hgvsp: ENST00000340490.3:c.654C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.620C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+177C>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.654C>G
  hgvsp: ENST00000426292.3:c.654C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+177C>G
  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.654C>G
  hgvsp: ENST00000276844.7:c.654C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27175
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser218Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

8-144659266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659266
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659266
    reference: chr 8
allele count: 1
allele frequency: 8.475150857685267e-6
allele num: 117992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.472C>T
  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.650C>T
  hgvsp: ENSP00000405670.3:p.Thr217Ile
  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.650C>T
  hgvsp: ENSP00000276844.7:p.Thr217Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+173C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.616C>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.650C>T
  hgvsp: ENSP00000341136.3:p.Thr217Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+173C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.872G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.650C>T
  hgvsp: ENSP00000401508.2:p.Thr217Ile
  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.650C>T
  hgvsp: ENSP00000390949.3:p.Thr217Ile
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.488C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr217Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

8-144659268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659268
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659268
    reference: chr 8
allele count: 1
allele frequency: 8.477306251165629e-6
allele num: 117962
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.648C>T
  hgvsp: ENST00000449291.2:c.648C>T(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.648C>T
  hgvsp: ENST00000435154.3:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+171C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+171C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.486C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.614C>T
  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.648C>T
  hgvsp: ENST00000426292.3:c.648C>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.648C>T
  hgvsp: ENST00000340490.3:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.874G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.648C>T
  hgvsp: ENST00000276844.7:c.648C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.470C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27204
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val216Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

8-144659270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659270
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659270
    reference: chr 8
allele count: 1
allele frequency: 8.480613317955154e-6
allele num: 117916
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.646G>A
  hgvsp: ENSP00000401508.2:p.Val216Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+169G>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.612G>A
  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.646G>A
  hgvsp: ENSP00000390949.3:p.Val216Ile
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.484G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+169G>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.646G>A
  hgvsp: ENSP00000341136.3:p.Val216Ile
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.468G>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.646G>A
  hgvsp: ENSP00000405670.3:p.Val216Ile
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.876C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.646G>A
  hgvsp: ENSP00000276844.7:p.Val216Ile
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val216Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-144659271-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659271
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659271
    reference: chr 8
allele count: 1
allele frequency: 8.483779014524229e-6
allele num: 117872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.645C>T
  hgvsp: ENST00000426292.3:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+168C>T
  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.645C>T
  hgvsp: ENST00000276844.7:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+168C>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.645C>T
  hgvsp: ENST00000435154.3:c.645C>T(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.645C>T
  hgvsp: ENST00000449291.2:c.645C>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.645C>T
  hgvsp: ENST00000340490.3:c.645C>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.611C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.483C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.877G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.467C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe215Phe
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

8-144659272-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659272
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659272
    reference: chr 8
allele count: 2
allele frequency: 1.69643917417341e-5
allele num: 117894
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.644T>C
  hgvsp: ENSP00000401508.2:p.Phe215Ser
  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.644T>C
  hgvsp: ENSP00000390949.3:p.Phe215Ser
  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.610T>C
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.466T>C
  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.644T>C
  hgvsp: ENSP00000341136.3:p.Phe215Ser
  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.644T>C
  hgvsp: ENSP00000276844.7:p.Phe215Ser
  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.644T>C
  hgvsp: ENSP00000405670.3:p.Phe215Ser
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.878A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+167T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+167T>C
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.482T>C
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe215Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

8-144659274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659274
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659274
    reference: chr 8
allele count: 3
allele frequency: 2.545479228889492e-5
allele num: 117856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.880G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+165C>T
  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.642C>T
  hgvsp: ENST00000340490.3:c.642C>T(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.642C>T
  hgvsp: ENST00000449291.2:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+165C>T
  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.642C>T
  hgvsp: ENST00000426292.3:c.642C>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.608C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.464C>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.642C>T
  hgvsp: ENST00000435154.3:c.642C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.480C>T
  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.642C>T
  hgvsp: ENST00000276844.7:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser214Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

8-144659274-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659274
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659274
    reference: chr 8
allele count: 1
allele frequency: 8.484930762964974e-6
allele num: 117856
alternate allele: C
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.608C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+165C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.880G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.642C>G
  hgvsp: ENST00000449291.2:c.642C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+165C>G
  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.642C>G
  hgvsp: ENST00000340490.3:c.642C>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.642C>G
  hgvsp: ENST00000435154.3:c.642C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.464C>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.642C>G
  hgvsp: ENST00000426292.3:c.642C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.480C>G
  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.642C>G
  hgvsp: ENST00000276844.7:c.642C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser214Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

8-144659275-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659275
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659275
    reference: chr 8
allele count: 1
allele frequency: 8.487379267029927e-6
allele num: 117822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.641C>A
  hgvsp: ENSP00000405670.3:p.Ser214Tyr
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.881G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.641C>A
  hgvsp: ENSP00000341136.3:p.Ser214Tyr
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.463C>A
  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.641C>A
  hgvsp: ENSP00000390949.3:p.Ser214Tyr
  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.607C>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.641C>A
  hgvsp: ENSP00000276844.7:p.Ser214Tyr
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+164C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+164C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.479C>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.641C>A
  hgvsp: ENSP00000401508.2:p.Ser214Tyr
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser214Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-144659280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659280
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659280
    reference: chr 8
allele count: 1
allele frequency: 8.493867427717188e-6
allele num: 117732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.474C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+159C>T
  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.636C>T
  hgvsp: ENST00000426292.3:c.636C>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.636C>T
  hgvsp: ENST00000276844.7:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.886G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+159C>T
  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.636C>T
  hgvsp: ENST00000340490.3:c.636C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.458C>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.636C>T
  hgvsp: ENST00000435154.3:c.636C>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.602C>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.636C>T
  hgvsp: ENST00000449291.2:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala212Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

8-144659286-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659286
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659286
    reference: chr 8
allele count: 4
allele frequency: 3.405182688051214e-5
allele num: 117468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.452C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.892G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.630C>A
  hgvsp: ENST00000340490.3:c.630C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+153C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+153C>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.630C>A
  hgvsp: ENST00000449291.2:c.630C>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.596C>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.630C>A
  hgvsp: ENST00000426292.3:c.630C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.468C>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.630C>A
  hgvsp: ENST00000435154.3:c.630C>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.630C>A
  hgvsp: ENST00000276844.7:c.630C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr210Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144659291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659291
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659291
    reference: chr 8
allele count: 14
allele frequency: 1.194641180988139e-4
allele num: 117190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.625G>A
  hgvsp: ENSP00000276844.7:p.Gly209Arg
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.897C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+148G>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.463G>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.625G>A
  hgvsp: ENSP00000401508.2:p.Gly209Arg
  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.625G>A
  hgvsp: ENSP00000341136.3:p.Gly209Arg
  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.625G>A
  hgvsp: ENSP00000390949.3:p.Gly209Arg
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.447G>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.625G>A
  hgvsp: ENSP00000405670.3:p.Gly209Arg
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+148G>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.591G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27029
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly209Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

8-144659292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659292
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659292
    reference: chr 8
allele count: 2
allele frequency: 1.706135262403603e-5
allele num: 117224
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.898G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.624C>T
  hgvsp: ENST00000449291.2:c.624C>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.624C>T
  hgvsp: ENST00000276844.7:c.624C>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.590C>T
  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.624C>T
  hgvsp: ENST00000340490.3:c.624C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.446C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+147C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.462C>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.624C>T
  hgvsp: ENST00000435154.3:c.624C>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.624C>T
  hgvsp: ENST00000426292.3:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+147C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala208Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

8-144659293-G-GCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659293
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659296
    reference: chr 8
allele count: 2
allele frequency: 1.706688512279624e-5
allele num: 117186
alternate allele: GCCA
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.586_588dupTGG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.620_622dupTGG
  hgvsp: ENSP00000401508.2:p.Val207dup
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.458_460dupTGG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.620_622dupTGG
  hgvsp: ENSP00000405670.3:p.Val207dup
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.620_622dupTGG
  hgvsp: ENSP00000390949.3:p.Val207dup
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.620_622dupTGG
  hgvsp: ENSP00000276844.7:p.Val207dup
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+143_363+145dupTGG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.620_622dupTGG
  hgvsp: ENSP00000341136.3:p.Val207dup
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.442_444dupTGG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+143_468+145dupTGG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.902_904dupACC
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val207dup
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-144659298-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659298
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659298
    reference: chr 8
allele count: 2
allele frequency: 1.713649216005484e-5
allele num: 116710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.618G>T
  hgvsp: ENST00000340490.3:c.618G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+141G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.904C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+141G>T
  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.618G>T
  hgvsp: ENST00000426292.3:c.618G>T(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.618G>T
  hgvsp: ENST00000435154.3:c.618G>T(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.618G>T
  hgvsp: ENST00000449291.2:c.618G>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.618G>T
  hgvsp: ENST00000276844.7:c.618G>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.440G>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.584G>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.456G>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro206Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

8-144659298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659298
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659298
    reference: chr 8
allele count: 7
allele frequency: 5.997772256019193e-5
allele num: 116710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.440G>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.618G>A
  hgvsp: ENST00000340490.3:c.618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.904C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.618G>A
  hgvsp: ENST00000435154.3:c.618G>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.456G>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.618G>A
  hgvsp: ENST00000449291.2:c.618G>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.618G>A
  hgvsp: ENST00000426292.3:c.618G>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.584G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+141G>A
  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.618G>A
  hgvsp: ENST00000276844.7:c.618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+141G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26901
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22151
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro206Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

8-144659299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659299
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659299
    reference: chr 8
allele count: 2
allele frequency: 1.713561122725248e-5
allele num: 116716
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.905G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.617C>T
  hgvsp: ENSP00000401508.2:p.Pro206Leu
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+140C>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.617C>T
  hgvsp: ENSP00000390949.3:p.Pro206Leu
  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.617C>T
  hgvsp: ENSP00000276844.7:p.Pro206Leu
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.455C>T
  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.617C>T
  hgvsp: ENSP00000405670.3:p.Pro206Leu
  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.617C>T
  hgvsp: ENSP00000341136.3:p.Pro206Leu
  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.583C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.439C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+140C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26940
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro206Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

8-144659308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659308
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659308
    reference: chr 8
allele count: 2
allele frequency: 1.722949689869056e-5
allele num: 116080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+131G>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.608G>A
  hgvsp: ENSP00000405670.3:p.Arg203Gln
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.446G>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.608G>A
  hgvsp: ENSP00000401508.2:p.Arg203Gln
  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.608G>A
  hgvsp: ENSP00000390949.3:p.Arg203Gln
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.430G>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.608G>A
  hgvsp: ENSP00000341136.3:p.Arg203Gln
  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.608G>A
  hgvsp: ENSP00000276844.7:p.Arg203Gln
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.914C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+131G>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.574G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg203Gln
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

8-144659309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659309
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659309
    reference: chr 8
allele count: 1
allele frequency: 8.616084506556841e-6
allele num: 116062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+130C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.915G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+130C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.607C>T
  hgvsp: ENSP00000401508.2:p.Arg203Ter
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.607C>T
  hgvsp: ENSP00000390949.3:p.Arg203Ter
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.429C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.607C>T
  hgvsp: ENSP00000341136.3:p.Arg203Ter
  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.573C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.607C>T
  hgvsp: ENSP00000405670.3:p.Arg203Ter
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.445C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.607C>T
  hgvsp: ENSP00000276844.7:p.Arg203Ter
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg203Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

8-144659312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659312
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659312
    reference: chr 8
allele count: 1
allele frequency: 8.652614820198665e-6
allele num: 115572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.604C>T
  hgvsp: ENST00000426292.3:c.604C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.442C>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.604C>T
  hgvsp: ENST00000435154.3:c.604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.918G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.426C>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.604C>T
  hgvsp: ENST00000449291.2:c.604C>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.570C>T
  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.604C>T
  hgvsp: ENST00000340490.3:c.604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+127C>T
  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.604C>T
  hgvsp: ENST00000276844.7:c.604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+127C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu202Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

8-144659315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659315
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659315
    reference: chr 8
allele count: 1
allele frequency: 8.673026886383348e-6
allele num: 115300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.439C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.601C>T
  hgvsp: ENSP00000341136.3:p.Gln201Ter
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.601C>T
  hgvsp: ENSP00000401508.2:p.Gln201Ter
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+124C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.601C>T
  hgvsp: ENSP00000405670.3:p.Gln201Ter
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.601C>T
  hgvsp: ENSP00000276844.7:p.Gln201Ter
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.601C>T
  hgvsp: ENSP00000390949.3:p.Gln201Ter
  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.567C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+124C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.423C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.921G>A
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln201Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

8-144659319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659319
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659319
    reference: chr 8
allele count: 1
allele frequency: 8.736065974770241e-6
allele num: 114468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.419G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+120G>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.597G>A
  hgvsp: ENST00000426292.3:c.597G>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.597G>A
  hgvsp: ENST00000276844.7:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.925C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.597G>A
  hgvsp: ENST00000435154.3:c.597G>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.597G>A
  hgvsp: ENST00000449291.2:c.597G>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.597G>A
  hgvsp: ENST00000340490.3:c.597G>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.435G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+120G>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.563G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala199Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-144659327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659327
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659327
    reference: chr 8
allele count: 2
allele frequency: 1.767596422384841e-5
allele num: 113148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+112G>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.589G>A
  hgvsp: ENSP00000405670.3:p.Val197Met
  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.555G>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.411G>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.427G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+112G>A
  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.589G>A
  hgvsp: ENSP00000390949.3:p.Val197Met
  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.589G>A
  hgvsp: ENSP00000341136.3:p.Val197Met
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.933C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.589G>A
  hgvsp: ENSP00000276844.7:p.Val197Met
  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.589G>A
  hgvsp: ENSP00000401508.2:p.Val197Met
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val197Met
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-144659328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659328
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659328
    reference: chr 8
allele count: 5
allele frequency: 4.426894268057302e-5
allele num: 112946
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.588C>T
  hgvsp: ENST00000435154.3:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+111C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.426C>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.588C>T
  hgvsp: ENST00000449291.2:c.588C>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.588C>T
  hgvsp: ENST00000340490.3:c.588C>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.588C>T
  hgvsp: ENST00000426292.3:c.588C>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.588C>T
  hgvsp: ENST00000276844.7:c.588C>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.554C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+111C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.410C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.934G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn196Asn
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

8-144659331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659331
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659331
    reference: chr 8
allele count: 2
allele frequency: 1.779201138688729e-5
allele num: 112410
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.551C>T
  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.585C>T
  hgvsp: ENST00000276844.7:c.585C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.423C>T
  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.585C>T
  hgvsp: ENST00000426292.3:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+108C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.407C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.937G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.585C>T
  hgvsp: ENST00000340490.3:c.585C>T(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.585C>T
  hgvsp: ENST00000435154.3:c.585C>T(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.585C>T
  hgvsp: ENST00000449291.2:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+108C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser195Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

8-144659336-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659336
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659336
    reference: chr 8
allele count: 1
allele frequency: 9.006088115566123e-6
allele num: 111036
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.580A>T
  hgvsp: ENSP00000405670.3:p.Ser194Cys
  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.546A>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+103A>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.402A>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.580A>T
  hgvsp: ENSP00000276844.7:p.Ser194Cys
  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.580A>T
  hgvsp: ENSP00000341136.3:p.Ser194Cys
  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.580A>T
  hgvsp: ENSP00000390949.3:p.Ser194Cys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.942T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.580A>T
  hgvsp: ENSP00000401508.2:p.Ser194Cys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+103A>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.418A>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser194Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

8-144659342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659342
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659342
    reference: chr 8
allele count: 2
allele frequency: 1.826083780723859e-5
allele num: 109524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.574G>A
  hgvsp: ENSP00000276844.7:p.Asp192Asn
  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.574G>A
  hgvsp: ENSP00000341136.3:p.Asp192Asn
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.412G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+97G>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.574G>A
  hgvsp: ENSP00000401508.2:p.Asp192Asn
  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.574G>A
  hgvsp: ENSP00000390949.3:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.948C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.396G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+97G>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.574G>A
  hgvsp: ENSP00000405670.3:p.Asp192Asn
  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.540G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20893
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp192Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

8-144659343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659343
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659343
    reference: chr 8
allele count: 25
allele frequency: 2.294040999100736e-4
allele num: 108978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+96C>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.573C>T
  hgvsp: ENST00000435154.3:c.573C>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.573C>T
  hgvsp: ENST00000340490.3:c.573C>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.573C>T
  hgvsp: ENST00000276844.7:c.573C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.411C>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.573C>T
  hgvsp: ENST00000449291.2:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+96C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.395C>T
  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.573C>T
  hgvsp: ENST00000426292.3:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.949G>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.539C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9329
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16001
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20075
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Phe191Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum

8-144659343-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659343
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659343
    reference: chr 8
allele count: 1
allele frequency: 9.176163996402944e-6
allele num: 108978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.573C>G
  hgvsp: ENSP00000390949.3:p.Phe191Leu
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+96C>G
  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.573C>G
  hgvsp: ENSP00000276844.7:p.Phe191Leu
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.411C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+96C>G
  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.573C>G
  hgvsp: ENSP00000341136.3:p.Phe191Leu
  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.573C>G
  hgvsp: ENSP00000401508.2:p.Phe191Leu
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.395C>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.539C>G
  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.573C>G
  hgvsp: ENSP00000405670.3:p.Phe191Leu
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.949G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe191Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

8-144659359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659359
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659359
    reference: chr 8
allele count: 1
allele frequency: 9.518732866280841e-6
allele num: 105056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+80C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.965G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-12C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.523C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-12C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-12C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+80C>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.407-12C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-12C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-12C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-12C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

8-144659360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659360
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659360
    reference: chr 8
allele count: 1
allele frequency: 9.545628102329133e-6
allele num: 104760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.966G>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.522C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+79C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-13C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-13C>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.407-13C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-13C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+79C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-13C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-13C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-13C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-144659360-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659360
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659360
    reference: chr 8
allele count: 1
allele frequency: 9.545628102329133e-6
allele num: 104760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-13C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+79C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-13C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-13C>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.522C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-13C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+79C>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.407-13C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-13C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-13C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.966G>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

8-144659362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659362
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659362
    reference: chr 8
allele count: 4
allele frequency: 3.869594659959369e-5
allele num: 103370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+77C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-15C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+77C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.520C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.968G>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.407-15C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12694
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-144659365-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659365
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659365
    reference: chr 8
allele count: 493
allele frequency: 4.79199066874028e-3
allele num: 102880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-18C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-18C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-18C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-18C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+74C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-18C>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.407-18C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+74C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-18C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.517C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.971G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 12633
  bin: 2.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 2.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 14415
  bin: 1.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 1.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 10
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-144659367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659367
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659367
    reference: chr 8
allele count: 1
allele frequency: 9.724410214520489e-6
allele num: 102834
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.973G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+72C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+72C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-20C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.515C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-20C>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.407-20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-20C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11914
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

8-144659367-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659367
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659367
    reference: chr 8
allele count: 1
allele frequency: 9.724410214520489e-6
allele num: 102834
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.407-20C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-20C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-20C>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.515C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+72C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-20C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-20C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-20C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.973G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-20C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+72C>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12791
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

8-144659369-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659369
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659369
    reference: chr 8
allele count: 7
allele frequency: 6.84168344508083e-5
allele num: 102314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-22A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-22A>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.407-22A>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.513A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-22A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.975T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-22A>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-22A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+70A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-22A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+70A>G
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-144659376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659376
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659376
    reference: chr 8
allele count: 1
allele frequency: 1.003633152010277e-5
allele num: 99638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.982A>G
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.407-29T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-29T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-29T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-29T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-29T>C
  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.506T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-29T>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-29T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+63T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+63T>C
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

8-144659381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659381
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659381
    reference: chr 8
allele count: 8
allele frequency: 8.15078960774325e-5
allele num: 98150
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.407-34C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-34C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+58C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-34C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+58C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-34C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-34C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.501C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-34C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.987G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-34C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14909
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-144659386-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659386
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659386
    reference: chr 8
allele count: 1
allele frequency: 1.01580594043314e-5
allele num: 98444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-39T>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.496T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-39T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.992A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-39T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-39T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+53T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-39T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-39T>A
  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.407-39T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+53T>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

8-144659389-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659389
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659389
    reference: chr 8
allele count: 1
allele frequency: 1.018661885746883e-5
allele num: 98168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+50T>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.407-42T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-42T>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-42T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-42T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.995A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-42T>C
  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.493T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-42T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+50T>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-42T>C
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

8-144659389-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659389
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659389
    reference: chr 8
allele count: 1
allele frequency: 1.018661885746883e-5
allele num: 98168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-42T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-42T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-42T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-42T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+50T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-42T>A
  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.407-42T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.995A>T
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.493T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-42T>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+50T>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14580
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-144659390-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659390
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659390
    reference: chr 8
allele count: 1
allele frequency: 1.019929420884075e-5
allele num: 98046
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.492A>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-43A>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-43A>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+49A>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-43A>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-43A>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.996T>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.407-43A>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-43A>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+49A>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-43A>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

8-144659392-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659392
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659392
    reference: chr 8
allele count: 1
allele frequency: 1.02475815707493e-5
allele num: 97584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+47C>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.490C>A
  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.407-45C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.569-45C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.391-45C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.569-45C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.998G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.569-45C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+47C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.569-45C>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.569-45C>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-144659395-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659395
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659395
    reference: chr 8
allele count: 1
allele frequency: 1.02827763496144e-5
allele num: 97250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568+44G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568+44G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+44G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568+44G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568+44G>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390+44G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568+44G>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.406+44G>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.487G>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1001C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+44G>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

8-144659400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659400
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659400
    reference: chr 8
allele count: 1
allele frequency: 1.035582618781326e-5
allele num: 96564
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1006C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568+39G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568+39G>A
  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.406+39G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+39G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390+39G>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.482G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568+39G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568+39G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568+39G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+39G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

8-144659405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659405
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659405
    reference: chr 8
allele count: 7
allele frequency: 7.247577238465999e-5
allele num: 96584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568+34G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568+34G>A
  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.406+34G>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.477G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568+34G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568+34G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+34G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390+34G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1011C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+34G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568+34G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16923
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

8-144659407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659407
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659407
    reference: chr 8
allele count: 2
allele frequency: 2.07447360232341e-5
allele num: 96410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1013G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568+32C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.475C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390+32C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568+32C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+32C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568+32C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+32C>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.406+32C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568+32C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568+32C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-144659409-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659409
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659409
    reference: chr 8
allele count: 3
allele frequency: 3.107069619073265e-5
allele num: 96554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568+30G>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.406+30G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568+30G>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390+30G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1015C>G
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.473G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568+30G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+30G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+30G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568+30G>C
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568+30G>C
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18624
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-144659413-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659413
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659413
    reference: chr 8
allele count: 11
allele frequency: 1.138362827279313e-4
allele num: 96630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568+26A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568+26A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1019T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568+26A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568+26A>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390+26A>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.406+26A>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.469A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+26A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+26A>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568+26A>G
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19865
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

8-144659419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659419
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659419
    reference: chr 8
allele count: 5
allele frequency: 5.196100845925218e-5
allele num: 96226
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.406+20C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390+20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568+20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568+20C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.463C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568+20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568+20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1025G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+20C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568+20C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16869
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

8-144659419-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659419
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659420
    reference: chr 8
allele count: 2
allele frequency: 2.078440338370087e-5
allele num: 96226
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568+19dupG
  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.406+19dupG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568+19dupG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568+19dupG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1029dupC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390+19dupG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568+19dupG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568+19dupG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+19dupG
  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.462dupG
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+19dupG
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

8-144659424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659424
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659424
    reference: chr 8
allele count: 4
allele frequency: 4.191202665604895e-5
allele num: 95438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468+15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363+15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1030G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568+15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568+15C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390+15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568+15C>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: ENST00000480946
  gene symbol: NAPRT1
  hgvsc: ENST00000480946.2:n.458C>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.406+15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568+15C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568+15C>T
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21878
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-144659439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659439
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659439
    reference: chr 8
allele count: 1
allele frequency: 1.05496360375567e-5
allele num: 94790
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1045C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.568G>A
  hgvsp: ENSP00000401508.2:p.Gly190Ser
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.568G>A
  hgvsp: ENSP00000390949.3:p.Gly190Ser
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.390G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000433245
  ensembl transcript: ENST00000532645
  gene symbol: NAPRT1
  hgvsc: ENST00000532645.1:c.363G>A
  hgvsp: ENSP00000433245.1:p.Asp122Asn
  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.443G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.568G>A
  hgvsp: ENSP00000405670.3:p.Gly190Ser
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.568G>A
  hgvsp: ENSP00000276844.7:p.Gly190Ser
  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.720G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000341136
  ensembl transcript: ENST00000340490
  gene symbol: NAPRT1
  hgvsc: ENST00000340490.3:c.568G>A
  hgvsp: ENSP00000341136.3:p.Gly190Ser
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000437102
  ensembl transcript: ENST00000525583
  gene symbol: NAPRT1
  hgvsc: ENST00000525583.1:c.468G>A
  hgvsp: ENSP00000437102.1:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.406G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly190Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

8-144659445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659445
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659445
    reference: chr 8
allele count: 82
allele frequency: 8.770428681440917e-4
allele num: 93496
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.562C>T
  hgvsp: ENST00000435154.3:c.562C>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.562C>T
  hgvsp: ENST00000340490.3:c.562C>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.437C>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.714C>T
  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.357C>T
  hgvsp: ENST00000532645.1:c.357C>T(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.562C>T
  hgvsp: ENST00000449291.2:c.562C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.384C>T
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1051G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.400C>T
  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.562C>T
  hgvsp: ENST00000276844.7:c.562C>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.462C>T
  hgvsp: ENST00000525583.1:c.462C>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.562C>T
  hgvsp: ENST00000426292.3:c.562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11469
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 17207
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15196
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 1.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
hgvs: p.Leu188Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

8-144659446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659446
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659446
    reference: chr 8
allele count: 2
allele frequency: 2.140365146293958e-5
allele num: 93442
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.561C>T
  hgvsp: ENST00000449291.2:c.561C>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.436C>T
  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.356C>T
  hgvsp: ENST00000532645.1:c.356C>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.561C>T
  hgvsp: ENST00000340490.3:c.561C>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.399C>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.713C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.383C>T
  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.561C>T
  hgvsp: ENST00000276844.7:c.561C>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.461C>T
  hgvsp: ENST00000525583.1:c.461C>T(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.561C>T
  hgvsp: ENST00000435154.3:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1052G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000390949
  ensembl transcript: ENST00000426292
  gene symbol: NAPRT1
  hgvsc: ENST00000426292.3:c.561C>T
  hgvsp: ENST00000426292.3:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr187Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

8-144659450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659450
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659450
    reference: chr 8
allele count: 4
allele frequency: 4.299873153741965e-5
allele num: 93026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.379G>A
  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.557G>A
  hgvsp: ENSP00000390949.3:p.Ser186Asn
  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.557G>A
  hgvsp: ENSP00000276844.7:p.Ser186Asn
  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.457G>A
  hgvsp: ENSP00000437102.1:p.Ser153Asn
  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.557G>A
  hgvsp: ENSP00000405670.3:p.Ser186Asn
  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.352G>A
  hgvsp: ENSP00000433245.1:p.Ser118Asn
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.395G>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.432G>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.557G>A
  hgvsp: ENSP00000401508.2:p.Ser186Asn
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1056C>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.709G>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.557G>A
  hgvsp: ENSP00000341136.3:p.Ser186Asn
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16440
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser186Asn
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-144659453-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659453
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659453
    reference: chr 8
allele count: 1
allele frequency: 1.083517531313657e-5
allele num: 92292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.376A>G
  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.554A>G
  hgvsp: ENSP00000341136.3:p.Tyr185Cys
  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.554A>G
  hgvsp: ENSP00000401508.2:p.Tyr185Cys
  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.349A>G
  hgvsp: ENSP00000433245.1:p.Tyr117Cys
  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.554A>G
  hgvsp: ENSP00000405670.3:p.Tyr185Cys
  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.554A>G
  hgvsp: ENSP00000276844.7:p.Tyr185Cys
  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.554A>G
  hgvsp: ENSP00000390949.3:p.Tyr185Cys
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1059T>C
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.454A>G
  hgvsp: ENSP00000437102.1:p.Tyr152Cys
  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.706A>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.429A>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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.392A>G
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr185Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

8-144659457-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659457
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659457
    reference: chr 8
allele count: 1
allele frequency: 1.098804500703235e-5
allele num: 91008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000405670
  ensembl transcript: ENST00000435154
  gene symbol: NAPRT1
  hgvsc: ENST00000435154.3:c.550A>G
  hgvsp: ENSP00000405670.3:p.Thr184Ala
  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.345A>G
  hgvsp: ENSP00000433245.1:p.Thr116Ala
  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.550A>G
  hgvsp: ENSP00000341136.3:p.Thr184Ala
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.388A>G
  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.450A>G
  hgvsp: ENSP00000437102.1:p.Thr151Ala
  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.550A>G
  hgvsp: ENSP00000390949.3:p.Thr184Ala
  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.550A>G
  hgvsp: ENSP00000401508.2:p.Thr184Ala
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1063T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.372A>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: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.702A>G
  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.550A>G
  hgvsp: ENSP00000276844.7:p.Thr184Ala
  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.425A>G
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr184Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

8-144659469-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659469
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659469
    reference: chr 8
allele count: 2
allele frequency: 2.318464249281276e-5
allele num: 86264
alternate allele: C
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.333C>G
  hgvsp: ENSP00000433245.1:p.Leu112Val
  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.538C>G
  hgvsp: ENSP00000276844.7:p.Leu180Val
  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.538C>G
  hgvsp: ENSP00000401508.2:p.Leu180Val
  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.538C>G
  hgvsp: ENSP00000405670.3:p.Leu180Val
  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.438C>G
  hgvsp: ENSP00000437102.1:p.Leu147Val
  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.538C>G
  hgvsp: ENSP00000341136.3:p.Leu180Val
  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.690C>G
  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.538C>G
  hgvsp: ENSP00000390949.3:p.Leu180Val
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.376C>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.360C>G
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1075G>C
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.413C>G
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu180Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

8-144659471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659471
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659471
    reference: chr 8
allele count: 3
allele frequency: 3.460127794053193e-5
allele num: 86702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000401508
  ensembl transcript: ENST00000449291
  gene symbol: NAPRT1
  hgvsc: ENST00000449291.2:c.536G>A
  hgvsp: ENSP00000401508.2:p.Gly179Asp
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1077C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.374G>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.536G>A
  hgvsp: ENSP00000276844.7:p.Gly179Asp
  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.536G>A
  hgvsp: ENSP00000405670.3:p.Gly179Asp
  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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.358G>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: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.688G>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.411G>A
  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.331G>A
  hgvsp: ENSP00000433245.1:p.Gly111Asp
  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.436G>A
  hgvsp: ENSP00000437102.1:p.Gly146Asp
  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.536G>A
  hgvsp: ENSP00000390949.3:p.Gly179Asp
  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.536G>A
  hgvsp: ENSP00000341136.3:p.Gly179Asp
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly179Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-144659474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659474
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659474
    reference: chr 8
allele count: 2
allele frequency: 2.363563308043206e-5
allele num: 84618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147813
  ensembl transcript: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.355G>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.533G>A
  hgvsp: ENSP00000401508.2:p.Gly178Glu
  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.328G>A
  hgvsp: ENSP00000433245.1:p.Gly110Glu
  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.533G>A
  hgvsp: ENSP00000405670.3:p.Gly178Glu
  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.533G>A
  hgvsp: ENSP00000341136.3:p.Gly178Glu
  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.533G>A
  hgvsp: ENSP00000390949.3:p.Gly178Glu
  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.408G>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.533G>A
  hgvsp: ENSP00000276844.7:p.Gly178Glu
  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.685G>A
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1080C>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.433G>A
  hgvsp: ENSP00000437102.1:p.Gly145Glu
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.371G>A
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18653
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly178Glu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

8-144659475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144659475
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144659475
    reference: chr 8
allele count: 1
allele frequency: 1.181139563450817e-5
allele num: 84664
alternate allele: T
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.407G>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: ENST00000462059
  gene symbol: NAPRT1
  hgvsc: ENST00000462059.1:n.684G>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.532G>A
  hgvsp: ENSP00000341136.3:p.Gly178Arg
  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.327G>A
  hgvsp: ENSP00000433245.1:p.Gly110Arg
  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.532G>A
  hgvsp: ENSP00000405670.3:p.Gly178Arg
  variant of: http://identifiers.org/hgnc/30450
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255050
  ensembl transcript: ENST00000531730
  gene symbol: RP11-661A12.9
  hgvsc: ENST00000531730.1:n.1081C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147813
  ensembl protein: ENSP00000276844
  ensembl transcript: ENST00000276844
  gene symbol: NAPRT1
  hgvsc: ENST00000276844.7:c.532G>A
  hgvsp: ENSP00000276844.7:p.Gly178Arg
  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.432G>A
  hgvsp: ENSP00000437102.1:p.Gly145Arg
  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.532G>A
  hgvsp: ENSP00000401508.2:p.Gly178Arg
  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: ENST00000491904
  gene symbol: NAPRT1
  hgvsc: ENST00000491904.1:n.370G>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: ENST00000488096
  gene symbol: NAPRT1
  hgvsc: ENST00000488096.1:n.354G>A
  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.532G>A
  hgvsp: ENSP00000390949.3:p.Gly178Arg
  variant of: http://identifiers.org/hgnc/30450
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly178Arg
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 45742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.096934035305048e-5
allele num: 64580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 1.521318e6

FS
type: SiteQuality
SIO_000300: 6.907e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7867
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.645401052957572e-5
allele num: 64580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.907e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.521318e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.319e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 385
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7884
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547269070091289e-5
allele num: 64630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.521947e6

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 8.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45935
bin: 6.25e1
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GenotypeQuality
all individuals: 1227
bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547269070091289e-5
allele num: 64630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.521947e6

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 8.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 46040
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.003003003003003e-4
allele num: 9990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54669471339747e-5
allele num: 64654
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 2.459e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

DP
type: SiteQuality
SIO_000300: 1.522915e6

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.002606777621817e-4
allele num: 9974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.277298450691158e-5
allele num: 64674
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.085e1

DP
type: SiteQuality
SIO_000300: 1.523622e6

GenotypeQuality
all individuals: 1688
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.003814495081309e-4
allele num: 9962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64676
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.207e0

QD
type: SiteQuality
SIO_000300: 1.29e1

DP
type: SiteQuality
SIO_000300: 1.522331e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

FS
type: SiteQuality
SIO_000300: 2.821e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 129
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 1208
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GenotypeQuality
all individuals: 1687
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7859
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GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-5
allele num: 11440
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64658
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.415e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.959e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

FS
type: SiteQuality
SIO_000300: 3.488e0

DP
type: SiteQuality
SIO_000300: 1.521905e6

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.69e0

GenotypeQuality
all individuals: 7854
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 1202
bin: 7.75e1
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GenotypeQuality
all individuals: 471
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 421
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547125440930751e-5
allele num: 64636
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 6.914e0

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
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SIO_000300: -1.687e0

DP
type: SiteQuality
SIO_000300: 1.521463e6

QD
type: SiteQuality
SIO_000300: 1.071e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 415
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547364837681428e-5
allele num: 64626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
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MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3272e1

DP
type: SiteQuality
SIO_000300: 1.520924e6

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7853
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GenotypeQuality
all individuals: 1203
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.094346628709348e-5
allele num: 64634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.520761e6

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

FS
type: SiteQuality
SIO_000300: 6.541e0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.929346040092015e-4
allele num: 6086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64612
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.520129e6

ReadPosRankSum
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SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
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SIO_000300: -1.716e0

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.384e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.716e0

QD
type: SiteQuality
SIO_000300: 1.139e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.384e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

DP
type: SiteQuality
SIO_000300: 1.520129e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548083472660846e-5
allele num: 64596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.388e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.671e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 1.519074e6

QD
type: SiteQuality
SIO_000300: 1.021e1

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 128
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.517799e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

FS
type: SiteQuality
SIO_000300: 4.642e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.83060776177691e-4
allele num: 16388
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552023839086168e-5
allele num: 64432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.513948e6

FS
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.252e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.866542230517965e-4
allele num: 64290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.666666666666667e-4
allele num: 6000
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

FS
type: SiteQuality
SIO_000300: 1.873e0

QD
type: SiteQuality
SIO_000300: 1.114e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
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SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.510718e6

BaseQRankSum
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SIO_000300: 1.51e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.110516656816698e-5
allele num: 64298
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.93e0

FS
type: SiteQuality
SIO_000300: 9.664e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.3e-3

DP
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SIO_000300: 1.510132e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 97
bin: 4.25e1
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GenotypeQuality
all individuals: 1640
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.111194076286479e-5
allele num: 64284
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.251e0

FS
type: SiteQuality
SIO_000300: 8.86e-1

MQ
type: SiteQuality
SIO_000300: 5.852e1

QD
type: SiteQuality
SIO_000300: 1.995e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 1.509267e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

GenotypeQuality
all individuals: 1155
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64036
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.224140041620761e-4
allele num: 16338
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.502137e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.144e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 1.107e1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.448280083241523e-4
allele num: 16338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.684864763570491e-5
allele num: 64036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 1.502137e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

FS
type: SiteQuality
SIO_000300: 1.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.107e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.123048094940662e-5
allele num: 64040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 1.50151e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.140604880499984e-5
allele num: 63682
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5874
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.490912e6

FS
type: SiteQuality
SIO_000300: 4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570795765134617e-5
allele num: 63662
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.028e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 1.490522e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.155361319709468e-5
allele num: 16246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.142e0

MQ
type: SiteQuality
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ClippingRankSum
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VQSLOD
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FS
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DP
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.016e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1667488899852e-5
allele num: 16216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

QD
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VQSLOD
type: SiteQuality
SIO_000300: 3.3e-2

DP
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SIO_000300: 1.476266e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele count: 1
allele frequency: 6.191950464396285e-5
allele num: 16150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62856
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
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SIO_000300: 5.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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DP
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QD
type: SiteQuality
SIO_000300: 8.1e0

VQSLOD
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SIO_000300: -1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

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

Latino
type: Population
allele count: 1
allele frequency: 9.077705156136529e-5
allele num: 11016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.250781347668459e-5
allele num: 15998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62164
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 2.438e0

QD
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SIO_000300: 5.52e0

DP
type: SiteQuality
SIO_000300: 1.425596e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.385e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.41829215431296e-4
allele num: 9228
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62056
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.111e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
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SIO_000300: 3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 9.961e0

DP
type: SiteQuality
SIO_000300: 1.420429e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.088613106901807e-4
allele num: 9186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618594412612088e-5
allele num: 61782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.26e-1

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.434e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61074
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.342762907522517e-5
allele num: 15766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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FS
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.315100281783524e-5
allele num: 60330
num of homozygotes: 0

South Asian
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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QD
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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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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GenotypeQuality
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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: 25

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
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African
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.843601895734597e-4
allele num: 10550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.665078465998068e-4
allele num: 60026
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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DP
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5463
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 700
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.665944757271849e-5
allele num: 60026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.284e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

DP
type: SiteQuality
SIO_000300: 1.294369e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1395
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13826
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4728
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.873617693522907e-5
allele num: 10128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 2.765e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.056e-1

DP
type: SiteQuality
SIO_000300: 1.15398e6

QD
type: SiteQuality
SIO_000300: 1.824e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

GenotypeQuality
all individuals: 431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13954
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.199328376109379e-4
allele num: 8338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.529e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.146905e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

QD
type: SiteQuality
SIO_000300: 1.038e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

GenotypeQuality
all individuals: 4110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1574
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13954
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20990
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730403183941859e-5
allele num: 57790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

MQRankSum
type: SiteQuality
SIO_000300: -1.529e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 1.146905e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4313
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5020
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variant carriers: 0

GenotypeQuality
all individuals: 14166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
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variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 801
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variant carriers: 0

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

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 3517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3577
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 18581
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.508895048949086e-5
allele num: 56998
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.323977227591685e-4
allele num: 15106
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.132e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.621e-1

QD
type: SiteQuality
SIO_000300: 1.718e1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

DP
type: SiteQuality
SIO_000300: 1.125138e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.155e0

GenotypeQuality
all individuals: 1102
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 746
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 167
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 5192
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1778
bin: 4.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4457
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14624
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1399
bin: 7.5e0
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GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 499
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3325
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 846
bin: 9.75e1
variant carriers: 467

GenotypeQuality
all individuals: 18133
bin: 6.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.057678747708363e-4
allele num: 56728
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.377410468319559e-3
allele num: 726
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.639224538573895e-5
allele num: 15062
num of homozygotes: 0

African
type: Population
allele count: 466
allele frequency: 5.719194894452626e-2
allele num: 8148
num of homozygotes: 10

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.914164819665525e-3
allele num: 9926
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 1.227e0

DP
type: SiteQuality
SIO_000300: 1.10729e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 1.537e1

GenotypeQuality
all individuals: 407
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3348
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
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variant carriers: 0

GenotypeQuality
all individuals: 5192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
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variant carriers: 0

GenotypeQuality
all individuals: 4469
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.5e0
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GenotypeQuality
all individuals: 19665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.236093943139679e-4
allele num: 8090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

DP
type: SiteQuality
SIO_000300: 1.102391e6

QD
type: SiteQuality
SIO_000300: 1.323e1

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.281e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeQuality
all individuals: 5192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.5e0
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GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 142
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variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
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GenotypeQuality
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4469
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.763233064146419e-5
allele num: 56714
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
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SIO_000300: -1.028e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
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SIO_000300: -2.281e0

DP
type: SiteQuality
SIO_000300: 1.102391e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4748
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.541703559412077e-5
allele num: 56470
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.664001066240171e-5
allele num: 15006
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 4.055972419387548e-4
allele num: 9862
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.298026998961578e-4
allele num: 7704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55066
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14738
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

MQ
type: SiteQuality
SIO_000300: 5.848e1

QD
type: SiteQuality
SIO_000300: 1.395e1

BaseQRankSum
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SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

InbreedingCoeff
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SIO_000300: -5.1e-3

VQSLOD
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SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 1.237e0

DP
type: SiteQuality
SIO_000300: 1.046565e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.115059221658206e-4
allele num: 9456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54258
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.951527924130664e-4
allele num: 7592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7168
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.054794520547945e-4
allele num: 14600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4654e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 1.032351e6

BaseQRankSum
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SIO_000300: -7.000000000000001e-2

ReadPosRankSum
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SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.278e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837019619369535e-5
allele num: 54436
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14596
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VQSLOD
type: SiteQuality
SIO_000300: -2.113e0

ClippingRankSum
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SIO_000300: -8.37e-1

ReadPosRankSum
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MQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 9.3e-2

InbreedingCoeff
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SIO_000300: -5.2e-3

MQ
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SIO_000300: 5.797e1

DP
type: SiteQuality
SIO_000300: 1.033696e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.841620626151013e-5
allele num: 54300
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.033542e6

VQSLOD
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QD
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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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SIO_000300: 2.1302e1

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

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

Other
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allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.387347391786903e-4
allele num: 7208
num of homozygotes: 0

European (Non-Finnish)
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allele num: 54300
num of homozygotes: 0

African
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DP
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54250
num of homozygotes: 0

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

Other
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.324152542372881e-4
allele num: 7552
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4364
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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FS
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.852537977028529e-5
allele num: 53980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
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SIO_000300: -6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

DP
type: SiteQuality
SIO_000300: 1.032883e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.859219871341985e-5
allele num: 53786
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.028909e6

ReadPosRankSum
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SIO_000300: 1.62e0

InbreedingCoeff
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MQ
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SIO_000300: 5.645e1

FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.743e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.873290622307145e-5
allele num: 53382
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14430
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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SIO_000300: -1.92e0

ReadPosRankSum
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VQSLOD
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.029875e6

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

Latino
type: Population
allele count: 3
allele frequency: 3.205128205128205e-4
allele num: 9360
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 7.486150621350502e-5
allele num: 53432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.041347e6

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.02e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

FS
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.748266426777615e-5
allele num: 53358
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.082e0

DP
type: SiteQuality
SIO_000300: 1.049776e6

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.615453728661276e-5
allele num: 53424
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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MQ
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
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SIO_000300: -5.7e-3

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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East Asian
type: Population
allele count: 11
allele frequency: 1.53288740245262e-3
allele num: 7176
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 9.409999999999999e-1

InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 5
allele frequency: 3.477051460361613e-4
allele num: 14380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

QD
type: SiteQuality
SIO_000300: 1.008e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.071829e6

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 617
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.758126949528355e-5
allele num: 53218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.008e1

DP
type: SiteQuality
SIO_000300: 1.071829e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.40331181588549e-4
allele num: 14252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.786014462575247e-5
allele num: 52826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 3.542e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

VQSLOD
type: SiteQuality
SIO_000300: -1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

DP
type: SiteQuality
SIO_000300: 1.080711e6

QD
type: SiteQuality
SIO_000300: 4.6e0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 24897
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variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4066
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.042253521126761e-5
allele num: 14200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.059832e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

QD
type: SiteQuality
SIO_000300: 1.541e1

GenotypeDepth
all individuals: 241
bin: 3.75e1
variant carriers: 8

GenotypeDepth
all individuals: 116
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variant carriers: 1

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 2146
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variant carriers: 2

GenotypeQuality
all individuals: 3194
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 490
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variant carriers: 1

GenotypeQuality
all individuals: 1509
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 80

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 910
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variant carriers: 1

GenotypeQuality
all individuals: 481
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 137
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 75
allele frequency: 1.056338028169014e-2
allele num: 7100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.795309662712978e-5
allele num: 51766
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.118318049653321e-4
allele num: 8942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.312823461759632e-4
allele num: 6956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.023281e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 920
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3992
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.829654782116582e-4
allele num: 7068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51748
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.32e1

ClippingRankSum
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SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 1.022504e6

BaseQRankSum
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SIO_000300: -1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3348
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3956
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.841716396703609e-4
allele num: 14076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6910
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.82e-1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.011409e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 1.949e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 4733
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variant carriers: 1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 126
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GenotypeQuality
all individuals: 21413
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 648
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GenotypeQuality
all individuals: 1977
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.954957772912105e-5
allele num: 51152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3914
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.863e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.637e0

QD
type: SiteQuality
SIO_000300: 9.75e0

FS
type: SiteQuality
SIO_000300: 4.752e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 9.90021e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4059
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2772
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4376
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.170514842965726e-5
allele num: 13946
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.65444e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.887e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

QD
type: SiteQuality
SIO_000300: 7.11e0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.18007774944614e-5
allele num: 47846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.96448e5

FS
type: SiteQuality
SIO_000300: 4.09e0

QD
type: SiteQuality
SIO_000300: 1.376e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

GenotypeDepth
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21873
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5059
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
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variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 5025
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.234932247069581e-5
allele num: 48116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.03285e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

QD
type: SiteQuality
SIO_000300: 1.056e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: -5.78e-1

FS
type: SiteQuality
SIO_000300: 3.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5419
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variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10929
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 1

GenotypeQuality
all individuals: 1371
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 1

GenotypeQuality
all individuals: 338
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 21002
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variant carriers: 0

GenotypeQuality
all individuals: 4260
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
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variant carriers: 0

GenotypeQuality
all individuals: 5275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
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variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.487431206306708e-4
allele num: 13446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.798e1

DP
type: SiteQuality
SIO_000300: 8.75659e5

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 1.186e0

VQSLOD
type: SiteQuality
SIO_000300: -2.716e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1