7-23221843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221843
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221843
    reference: chr 7
allele count: 3
allele frequency: 4.995836802664446e-5
allele num: 60050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+18C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10047C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+18C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+18C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+18C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+18C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+18C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.384C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+18C>T
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21097
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10083
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

7-23221843-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221843
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221843
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 60050
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10047C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.384C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+18C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+18C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+18C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+18C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+18C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+18C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+18C>G
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 21097
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

7-23221849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221849
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221849
    reference: chr 7
allele count: 1
allele frequency: 1.914828431372549e-5
allele num: 52224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+24C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.390C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+24C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+24C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+24C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10053C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22394
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

7-23221851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221851
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221851
    reference: chr 7
allele count: 1
allele frequency: 1.994813484939158e-5
allele num: 50130
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10055G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+26G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+26G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.392G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+26G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+26G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+26G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+26G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+26G>A
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22812
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15692
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-23221853-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221853
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221853
    reference: chr 7
allele count: 8
allele frequency: 1.639881928501148e-4
allele num: 48784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+28A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+28A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+28A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+28A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10057A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.394A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+28A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+28A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+28A>T
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23257
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-23221856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221856
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221856
    reference: chr 7
allele count: 2
allele frequency: 4.310902271845498e-5
allele num: 46394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10060C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+31C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+31C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+31C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+31C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.397C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+31C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+31C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+31C>T
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14106
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14802
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

7-23221857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221857
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221857
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 44998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+32G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+32G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+32G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.398G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+32G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10061G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+32G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+32G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+32G>A
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24300
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

7-23221857-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221857
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221857
    reference: chr 7
allele count: 2
allele frequency: 4.444641984088181e-5
allele num: 44998
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+32G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+32G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10061G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+32G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+32G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+32G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.398G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+32G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+32G>C
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24300
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21523
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-23221859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221859
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221859
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 42880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10063G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+34G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.400G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+34G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+34G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+34G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+34G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+34G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+34G>A
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24853
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

7-23221860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221860
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221860
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 42990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.401C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+35C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+35C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+35C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+35C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10064C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+35C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+35C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+35C>T
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12244
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-23221861-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221861
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221861
    reference: chr 7
allele count: 1
allele frequency: 2.374958438227331e-5
allele num: 42106
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10065C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+36C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+36C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+36C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+36C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.402C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+36C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+36C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+36C>A
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-23221864-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221864
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221864
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 41322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+39G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+39G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+39G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+39G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+39G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.405G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+39G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10068G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+39G>T
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16326
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

7-23221867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221867
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221867
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 38232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+42G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+42G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+42G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10071G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+42G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.408G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+42G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+42G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+42G>A
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26206
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16093
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

7-23221867-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221867
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221867
    reference: chr 7
allele count: 2
allele frequency: 5.231219920485457e-5
allele num: 38232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+42G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+42G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.408G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+42G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+42G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+42G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+42G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+42G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10071G>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11148
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6544
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

7-23221870-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23221870
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23221870
    reference: chr 7
allele count: 15596
allele frequency: 3.949154259090449e-1
allele num: 39492
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.70+10074T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.121+45T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.121+45T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.169+45T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.121+45T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.158+45T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.411T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.121+45T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.121+45T>C
  variant of: http://identifiers.org/hgnc/17010
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.75e1
  variant carriers: 1995
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 2.5e0
  variant carriers: 2045
genotype depth: GenotypeDepth
  all individuals: 26695
  bin: 7.5e0
  variant carriers: 12047
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.25e1
  variant carriers: 1317
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 11202
  bin: 1.25e1
  variant carriers: 6477
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 2.75e1
  variant carriers: 1157
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 767
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 8.25e1
  variant carriers: 895
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 540
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 5.25e1
  variant carriers: 801
genotype quality: GenotypeQuality
  all individuals: 7032
  bin: 2.5e0
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 1.75e1
  variant carriers: 2266
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 6.75e1
  variant carriers: 423
num of homozygotes: 3073
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

7-23224639-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224639
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224639
    reference: chr 7
allele count: 24
allele frequency: 3.971143027334701e-4
allele num: 60436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.650-50T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.122-50T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.122-50T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.122-50T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-2032T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9677T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.159-50T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.122-50T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.170-50T>C
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18059
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21314
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5870
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

7-23224639-TAGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224639
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224635
    reference: chr 7
allele count: 7
allele frequency: 1.158250049639288e-4
allele num: 60436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.122-44_122-41delGAAA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.122-44_122-41delGAAA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.650-44_650-41delGAAA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9671_71-9668delGAAA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-2026_122-2023delGAAA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.122-44_122-41delGAAA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.122-44_122-41delGAAA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.170-44_170-41delGAAA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.159-44_159-41delGAAA
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18059
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21314
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: TAGAA
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

7-23224642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224642
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224642
    reference: chr 7
allele count: 1
allele frequency: 1.641227638273429e-5
allele num: 60930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.122-47A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.159-47A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.122-47A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.650-47A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.122-47A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.170-47A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9674A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-2029A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.122-47A>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

7-23224653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224653
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224653
    reference: chr 7
allele count: 3
allele frequency: 4.747286134759629e-5
allele num: 63194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.122-36G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.650-36G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9663G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.170-36G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.122-36G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-2018G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.159-36G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.122-36G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.122-36G>A
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

7-23224659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224659
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224659
    reference: chr 7
allele count: 2
allele frequency: 2.984094774850049e-5
allele num: 67022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.170-30A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.122-30A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.122-30A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.122-30A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.159-30A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9657A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.650-30A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.122-30A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-2012A>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16503
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4610
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

7-23224664-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224664
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224664
    reference: chr 7
allele count: 1
allele frequency: 1.378093820627308e-5
allele num: 72564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.122-25T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.122-25T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.159-25T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-2007T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.122-25T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.650-25T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.170-25T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9652T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.122-25T>A
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-23224665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224665
    reference: chr 7
allele count: 1
allele frequency: 1.353033501109488e-5
allele num: 73908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.122-24A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.159-24A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.122-24A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.122-24A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.122-24A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-2006A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9651A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.170-24A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.650-24A>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-23224675-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224675
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224675
    reference: chr 7
allele count: 1
allele frequency: 1.076055610553953e-5
allele num: 92932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.159-14A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.122-14A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.122-14A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.122-14A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.170-14A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9641A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.650-14A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.122-14A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1996A>T
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36987
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

7-23224682-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224682
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224682
    reference: chr 7
allele count: 6
allele frequency: 5.571961887780688e-5
allele num: 107682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1989A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.159-7A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.122-7A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.122-7A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.170-7A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.122-7A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.122-7A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9634A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.650-7A>T
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44957
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 1
hgvs: c.122-7A>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

7-23224690-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224690
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224690
    reference: chr 7
allele count: 1
allele frequency: 8.58251227299255e-6
allele num: 116516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.160T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.651T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.123T>C
  hgvsp: ENST00000410002.3:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9626T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.171T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.123T>C
  hgvsp: ENST00000438012.1:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.123T>C
  hgvsp: ENST00000413919.1:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.123T>C
  hgvsp: ENST00000258742.5:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1981T>C
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
hgvs: c.123T>C
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

7-23224690-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224690
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224690
    reference: chr 7
allele count: 1
allele frequency: 8.58251227299255e-6
allele num: 116516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.160T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.123T>G
  hgvsp: ENST00000413919.1:c.123T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.123T>G
  hgvsp: ENST00000438012.1:c.123T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.123T>G
  hgvsp: ENST00000258742.5:c.123T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1981T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.123T>G
  hgvsp: ENST00000410002.3:c.123T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.171T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9626T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.651T>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 1
hgvs: c.123T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

7-23224700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224700
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224700
    reference: chr 7
allele count: 13
allele frequency: 1.083965646627199e-4
allele num: 119930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1971C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.133C>T
  hgvsp: ENSP00000258742.5:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.181C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.133C>T
  hgvsp: ENSP00000387330.3:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.170C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9616C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.661C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.133C>T
  hgvsp: ENSP00000415511.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.133C>T
  hgvsp: ENSP00000401475.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49841
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg45Cys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-23224701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224701
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224701
    reference: chr 7
allele count: 7
allele frequency: 5.821399464431249e-5
allele num: 120246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9615G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.134G>A
  hgvsp: ENSP00000387330.3:p.Arg45His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.171G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.134G>A
  hgvsp: ENSP00000401475.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.134G>A
  hgvsp: ENSP00000258742.5:p.Arg45His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.134G>A
  hgvsp: ENSP00000415511.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.662G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1970G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.182G>A
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg45His
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

7-23224705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224705
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224705
    reference: chr 7
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.186A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.138A>G
  hgvsp: ENST00000438012.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9611A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.175A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.138A>G
  hgvsp: ENST00000413919.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.138A>G
  hgvsp: ENST00000410002.3:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.138A>G
  hgvsp: ENST00000258742.5:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.666A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1966A>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly46Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

7-23224720-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224720
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224720
    reference: chr 7
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.190C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.153C>G
  hgvsp: ENSP00000258742.5:p.Ser51Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.153C>G
  hgvsp: ENSP00000387330.3:p.Ser51Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9596C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.201C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.681C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.153C>G
  hgvsp: ENSP00000401475.1:p.Ser51Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1951C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.153C>G
  hgvsp: ENSP00000415511.1:p.Ser51Arg
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser51Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

7-23224726-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224726
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224726
    reference: chr 7
allele count: 8
allele frequency: 6.598591200778633e-5
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.159A>T
  hgvsp: ENSP00000387330.3:p.Arg53Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.159A>T
  hgvsp: ENSP00000401475.1:p.Arg53Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.159A>T
  hgvsp: ENSP00000415511.1:p.Arg53Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.207A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.159A>T
  hgvsp: ENSP00000258742.5:p.Arg53Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.687A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.196A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1945A>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9590A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg53Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-23224726-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224726
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224726
    reference: chr 7
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.687A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.159A>G
  hgvsp: ENST00000258742.5:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9590A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1945A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.159A>G
  hgvsp: ENST00000413919.1:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.159A>G
  hgvsp: ENST00000438012.1:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.159A>G
  hgvsp: ENST00000410002.3:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.207A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.196A>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg53Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-23224732-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224732
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224732
    reference: chr 7
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.202C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.693C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.165C>A
  hgvsp: ENST00000258742.5:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.165C>A
  hgvsp: ENST00000413919.1:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.165C>A
  hgvsp: ENST00000410002.3:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.165C>A
  hgvsp: ENST00000438012.1:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.213C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9584C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1939C>A
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52765
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser55Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

7-23224734-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224734
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224734
    reference: chr 7
allele count: 661
allele frequency: 5.448939888548159e-3
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.167A>G
  hgvsp: ENSP00000415511.1:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1937A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.167A>G
  hgvsp: ENSP00000258742.5:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.695A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.204A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.167A>G
  hgvsp: ENSP00000387330.3:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.215A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.167A>G
  hgvsp: ENSP00000401475.1:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9582A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 49433
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn56Ser
num of homozygotes: 4
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/7-23224747-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224747
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224747
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.180A>C
  hgvsp: ENST00000413919.1:c.180A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.708A>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.180A>C
  hgvsp: ENST00000258742.5:c.180A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.228A>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.180A>C
  hgvsp: ENST00000438012.1:c.180A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.217A>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1924A>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.180A>C
  hgvsp: ENST00000410002.3:c.180A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9569A>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro60Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

7-23224747-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224747
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224747
    reference: chr 7
allele count: 32
allele frequency: 2.636522426918894e-4
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1924A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.708A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.180A>G
  hgvsp: ENST00000413919.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.180A>G
  hgvsp: ENST00000258742.5:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.180A>G
  hgvsp: ENST00000438012.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.180A>G
  hgvsp: ENST00000410002.3:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9569A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.228A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.217A>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro60Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

7-23224751-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224751
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224751
    reference: chr 7
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.184A>G
  hgvsp: ENSP00000258742.5:p.Ser62Gly
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.184A>G
  hgvsp: ENSP00000401475.1:p.Ser62Gly
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.184A>G
  hgvsp: ENSP00000387330.3:p.Ser62Gly
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.184A>G
  hgvsp: ENSP00000415511.1:p.Ser62Gly
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9565A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.712A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.221A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.232A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1920A>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser62Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

7-23224752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224752
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224752
    reference: chr 7
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.222G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9564G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.713G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.185G>A
  hgvsp: ENSP00000415511.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.185G>A
  hgvsp: ENSP00000258742.5:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.185G>A
  hgvsp: ENSP00000387330.3:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.185G>A
  hgvsp: ENSP00000401475.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.233G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1919G>A
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser62Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

7-23224752-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224752
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224752
    reference: chr 7
allele count: 43
allele frequency: 3.542476767943057e-4
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.185G>C
  hgvsp: ENSP00000415511.1:p.Ser62Thr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.233G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1919G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.185G>C
  hgvsp: ENSP00000387330.3:p.Ser62Thr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.222G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.185G>C
  hgvsp: ENSP00000401475.1:p.Ser62Thr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.185G>C
  hgvsp: ENSP00000258742.5:p.Ser62Thr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9564G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.713G>C
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser62Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

7-23224754-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224754
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224754
    reference: chr 7
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.187T>G
  hgvsp: ENSP00000415511.1:p.Phe63Val
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.224T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.187T>G
  hgvsp: ENSP00000401475.1:p.Phe63Val
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9562T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.235T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.715T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.187T>G
  hgvsp: ENSP00000258742.5:p.Phe63Val
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1917T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.187T>G
  hgvsp: ENSP00000387330.3:p.Phe63Val
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe63Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

7-23224755-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224755
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224755
    reference: chr 7
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.188T>G
  hgvsp: ENSP00000415511.1:p.Phe63Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.188T>G
  hgvsp: ENSP00000258742.5:p.Phe63Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9561T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.225T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.188T>G
  hgvsp: ENSP00000401475.1:p.Phe63Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.236T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1916T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.188T>G
  hgvsp: ENSP00000387330.3:p.Phe63Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.716T>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe63Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

7-23224759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224759
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224759
    reference: chr 7
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.720C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.192C>T
  hgvsp: ENST00000410002.3:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9557C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.192C>T
  hgvsp: ENST00000413919.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.229C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1912C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.192C>T
  hgvsp: ENST00000438012.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.192C>T
  hgvsp: ENST00000258742.5:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.240C>T
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser64Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-23224766-ACACCAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224766
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224760
    reference: chr 7
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.248_253delCACCAT
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.200_205delCACCAT
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.200_205delCACCAT
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.200_205delCACCAT
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.728_733delCACCAT
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.237_242delCACCAT
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.200_205delCACCAT
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr67_Trp69delinsArg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: ACACCAT
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

7-23224770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224770
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224770
    reference: chr 7
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9546C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.203C>T
  hgvsp: ENSP00000401475.1:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1901C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.203C>T
  hgvsp: ENSP00000258742.5:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.240C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.731C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.251C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.203C>T
  hgvsp: ENSP00000415511.1:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.203C>T
  hgvsp: ENSP00000387330.3:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro68Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

7-23224772-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224772
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224773
    reference: chr 7
allele count: 22
allele frequency: 1.814014083345702e-4
allele num: 121278
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9537dupG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.212dupG
  hgvsp: ENSP00000415511.1:p.Ser72GlnfsTer13
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.260dupG
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.212dupG
  hgvsp: ENSP00000387330.3:p.Ser72GlnfsTer13
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.212dupG
  hgvsp: ENSP00000401475.1:p.Ser72GlnfsTer13
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1892dupG
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.249dupG
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.212dupG
  hgvsp: ENSP00000258742.5:p.Ser72GlnfsTer13
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.740dupG
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 2
hgvs: p.Ser72GlnfsTer13
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

7-23224773-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224773
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224773
    reference: chr 7
allele count: 8
allele frequency: 6.599026643570073e-5
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.206G>C
  hgvsp: ENSP00000258742.5:p.Trp69Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.206G>C
  hgvsp: ENSP00000415511.1:p.Trp69Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9543G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.254G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1898G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.243G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.206G>C
  hgvsp: ENSP00000401475.1:p.Trp69Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.734G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.206G>C
  hgvsp: ENSP00000387330.3:p.Trp69Ser
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp69Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

7-23224773-GGGGGGGCAGCAGAGATCAAGAAAAGCCATATTTCAGTTCTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224773
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224732
    reference: chr 7
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsp: ENSP00000415511.1:p.Trp69CysfsTer2
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsp: ENSP00000387330.3:p.Trp69CysfsTer2
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsp: ENSP00000258742.5:p.Trp69CysfsTer2
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsp: ENSP00000401475.1:p.Trp69CysfsTer2
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52662
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp69CysfsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: GGGGGGGCAGCAGAGATCAAGAAAAGCCATATTTCAGTTCTT
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

7-23224774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224774
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224774
    reference: chr 7
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.207G>A
  hgvsp: ENSP00000387330.3:p.Trp69Ter
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1897G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.255G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.244G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.207G>A
  hgvsp: ENSP00000258742.5:p.Trp69Ter
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9542G>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.207G>A
  hgvsp: ENSP00000401475.1:p.Trp69Ter
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.735G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.207G>A
  hgvsp: ENSP00000415511.1:p.Trp69Ter
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp69Ter
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

7-23224774-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224774
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224774
    reference: chr 7
allele count: 7
allele frequency: 5.766537606063102e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.207G>C
  hgvsp: ENSP00000415511.1:p.Trp69Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.207G>C
  hgvsp: ENSP00000387330.3:p.Trp69Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9542G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.207G>C
  hgvsp: ENSP00000401475.1:p.Trp69Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.255G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.735G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.207G>C
  hgvsp: ENSP00000258742.5:p.Trp69Cys
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.244G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1897G>C
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp69Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

7-23224775-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224775
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224775
    reference: chr 7
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.208G>C
  hgvsp: ENSP00000415511.1:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.736G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.256G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.208G>C
  hgvsp: ENSP00000387330.3:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.208G>C
  hgvsp: ENSP00000258742.5:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.208G>C
  hgvsp: ENSP00000401475.1:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9541G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1896G>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.245G>C
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly70Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

7-23224775-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224775
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224775
    reference: chr 7
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.208G>T
  hgvsp: ENSP00000401475.1:p.Gly70Trp
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.208G>T
  hgvsp: ENSP00000415511.1:p.Gly70Trp
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.736G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.208G>T
  hgvsp: ENSP00000387330.3:p.Gly70Trp
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.256G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1896G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.208G>T
  hgvsp: ENSP00000258742.5:p.Gly70Trp
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.245G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9541G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly70Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

7-23224776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224776
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224776
    reference: chr 7
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9540G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.209G>A
  hgvsp: ENSP00000258742.5:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.737G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.257G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.209G>A
  hgvsp: ENSP00000401475.1:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.246G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1895G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.209G>A
  hgvsp: ENSP00000387330.3:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.209G>A
  hgvsp: ENSP00000415511.1:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly70Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-23224777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224777
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224777
    reference: chr 7
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.210G>A
  hgvsp: ENST00000410002.3:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.738G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.210G>A
  hgvsp: ENST00000258742.5:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.247G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9539G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.210G>A
  hgvsp: ENST00000413919.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.258G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.210G>A
  hgvsp: ENST00000438012.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1894G>A
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly70Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

7-23224790-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224790
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224790
    reference: chr 7
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9526C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.751C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.271C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.223C>G
  hgvsp: ENSP00000401475.1:p.Gln75Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1881C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.260C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.223C>G
  hgvsp: ENSP00000415511.1:p.Gln75Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.223C>G
  hgvsp: ENSP00000258742.5:p.Gln75Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.223C>G
  hgvsp: ENSP00000387330.3:p.Gln75Glu
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln75Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

7-23224796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224796
    reference: chr 7
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.229A>G
  hgvsp: ENSP00000401475.1:p.Lys77Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.229A>G
  hgvsp: ENSP00000387330.3:p.Lys77Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.277A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.229A>G
  hgvsp: ENSP00000258742.5:p.Lys77Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.229A>G
  hgvsp: ENSP00000415511.1:p.Lys77Glu
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9520A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1875A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.266A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.757A>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys77Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-23224802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224802
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224802
    reference: chr 7
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.235T>C
  hgvsp: ENSP00000415511.1:p.Tyr79His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.235T>C
  hgvsp: ENSP00000258742.5:p.Tyr79His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.235T>C
  hgvsp: ENSP00000387330.3:p.Tyr79His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.272T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9514T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.763T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.283T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.235T>C
  hgvsp: ENSP00000401475.1:p.Tyr79His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1869T>C
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52730
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr79His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-23224811-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224811
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224811
    reference: chr 7
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.244T>G
  hgvsp: ENSP00000258742.5:p.Ser82Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.244T>G
  hgvsp: ENSP00000387330.3:p.Ser82Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.292T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.244T>G
  hgvsp: ENSP00000415511.1:p.Ser82Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1860T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.244T>G
  hgvsp: ENSP00000401475.1:p.Ser82Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9505T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.772T>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.281T>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser82Ala
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: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-23224815-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224815
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224815
    reference: chr 7
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.776T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.248T>A
  hgvsp: ENSP00000387330.3:p.Phe83Tyr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.248T>A
  hgvsp: ENSP00000401475.1:p.Phe83Tyr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1856T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.248T>A
  hgvsp: ENSP00000415511.1:p.Phe83Tyr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.248T>A
  hgvsp: ENSP00000258742.5:p.Phe83Tyr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.296T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.285T>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9501T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe83Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

7-23224815-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224815
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224815
    reference: chr 7
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1856T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.248T>C
  hgvsp: ENSP00000258742.5:p.Phe83Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.285T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.248T>C
  hgvsp: ENSP00000387330.3:p.Phe83Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.248T>C
  hgvsp: ENSP00000401475.1:p.Phe83Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.776T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.296T>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.248T>C
  hgvsp: ENSP00000415511.1:p.Phe83Ser
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9501T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe83Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

7-23224818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224818
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224818
    reference: chr 7
allele count: 5
allele frequency: 4.118412599047823e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1853A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.299A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.251A>G
  hgvsp: ENSP00000415511.1:p.Asp84Gly
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.288A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.779A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.251A>G
  hgvsp: ENSP00000387330.3:p.Asp84Gly
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.251A>G
  hgvsp: ENSP00000401475.1:p.Asp84Gly
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9498A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.251A>G
  hgvsp: ENSP00000258742.5:p.Asp84Gly
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp84Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

7-23224832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224832
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224832
    reference: chr 7
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.265A>G
  hgvsp: ENSP00000401475.1:p.Thr89Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.265A>G
  hgvsp: ENSP00000387330.3:p.Thr89Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.313A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.793A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1839A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.265A>G
  hgvsp: ENSP00000415511.1:p.Thr89Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.265A>G
  hgvsp: ENSP00000258742.5:p.Thr89Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.302A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9484A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr89Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

7-23224834-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224834
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224833
    reference: chr 7
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.317delA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.797delA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.306delA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1835delA
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.269delA
  hgvsp: ENSP00000387330.3:p.Asn90ThrfsTer32
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.269delA
  hgvsp: ENSP00000401475.1:p.Asn90ThrfsTer32
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9480delA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.269delA
  hgvsp: ENSP00000258742.5:p.Asn90ThrfsTer32
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.269delA
  hgvsp: ENSP00000415511.1:p.Asn90ThrfsTer32
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn90ThrfsTer32
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: TA
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

7-23224835-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224835
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224835
    reference: chr 7
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.268A>G
  hgvsp: ENSP00000387330.3:p.Asn90Asp
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.305A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1836A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.268A>G
  hgvsp: ENSP00000258742.5:p.Asn90Asp
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.268A>G
  hgvsp: ENSP00000401475.1:p.Asn90Asp
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.796A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.316A>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.268A>G
  hgvsp: ENSP00000415511.1:p.Asn90Asp
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9481A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn90Asp
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-23224845-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224845
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224845
    reference: chr 7
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.278A>C
  hgvsp: ENSP00000401475.1:p.Glu93Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.326A>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.278A>C
  hgvsp: ENSP00000387330.3:p.Glu93Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.315A>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.806A>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.278A>C
  hgvsp: ENSP00000415511.1:p.Glu93Ala
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9471A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1826A>C
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.278A>C
  hgvsp: ENSP00000258742.5:p.Glu93Ala
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu93Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

7-23224848-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224848
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224848
    reference: chr 7
allele count: 34
allele frequency: 2.800751260338067e-4
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.281G>T
  hgvsp: ENSP00000258742.5:p.Gly94Val
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1823G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.281G>T
  hgvsp: ENSP00000415511.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.281G>T
  hgvsp: ENSP00000401475.1:p.Gly94Val
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9468G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.329G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.281G>T
  hgvsp: ENSP00000387330.3:p.Gly94Val
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.318G>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.809G>T
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly94Val
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-23224853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224853
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224853
    reference: chr 7
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9463G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.286G>A
  hgvsp: ENSP00000401475.1:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.334G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.286G>A
  hgvsp: ENSP00000258742.5:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.286G>A
  hgvsp: ENSP00000387330.3:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1818G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.323G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.814G>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.286G>A
  hgvsp: ENSP00000415511.1:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly96Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

7-23224867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224867
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224867
    reference: chr 7
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.300C>T
  hgvsp: ENST00000438012.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.300C>T
  hgvsp: ENST00000258742.5:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.337C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.300C>T
  hgvsp: ENST00000413919.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.300C>T
  hgvsp: ENST00000410002.3:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.828C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1804C>T
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9449C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.348C>T
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 49273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn100Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-23224868-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224868
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224868
    reference: chr 7
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.301C>A
  hgvsp: ENSP00000387330.3:p.Pro101Thr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.301C>A
  hgvsp: ENSP00000401475.1:p.Pro101Thr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.338C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.829C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.301C>A
  hgvsp: ENSP00000258742.5:p.Pro101Thr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1803C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.301C>A
  hgvsp: ENSP00000415511.1:p.Pro101Thr
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.349C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9448C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro101Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-23224887-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224887
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224887
    reference: chr 7
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.320C>A
  hgvsp: ENSP00000415511.1:p.Pro107His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.368C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9429C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1784C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.848C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.357C>A
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.320C>A
  hgvsp: ENSP00000387330.3:p.Pro107His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.320C>A
  hgvsp: ENSP00000258742.5:p.Pro107His
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.320C>A
  hgvsp: ENSP00000401475.1:p.Pro107His
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro107His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

7-23224887-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23224887
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 23224887
    reference: chr 7
allele count: 21
allele frequency: 1.731587453412052e-4
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000485250
  gene symbol: NUPL2
  hgvsc: ENST00000485250.1:n.848C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000406677
  ensembl transcript: ENST00000437140
  gene symbol: NUPL2
  hgvsc: ENST00000437140.1:c.122-1784C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000497500
  gene symbol: NUPL2
  hgvsc: ENST00000497500.1:n.368C>G
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000387330
  ensembl transcript: ENST00000410002
  gene symbol: NUPL2
  hgvsc: ENST00000410002.3:c.320C>G
  hgvsp: ENSP00000387330.3:p.Pro107Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000258742
  ensembl transcript: ENST00000258742
  gene symbol: NUPL2
  hgvsc: ENST00000258742.5:c.320C>G
  hgvsp: ENSP00000258742.5:p.Pro107Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214871
  ensembl protein: ENSP00000382107
  ensembl transcript: ENST00000366347
  gene symbol: AC005082.1
  hgvsc: ENST00000366347.4:c.71-9429C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000415511
  ensembl transcript: ENST00000438012
  gene symbol: NUPL2
  hgvsc: ENST00000438012.1:c.320C>G
  hgvsp: ENSP00000415511.1:p.Pro107Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136243
  ensembl protein: ENSP00000401475
  ensembl transcript: ENST00000413919
  gene symbol: NUPL2
  hgvsc: ENST00000413919.1:c.320C>G
  hgvsp: ENSP00000401475.1:p.Pro107Arg
  variant of: http://identifiers.org/hgnc/17010
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136243
  ensembl transcript: ENST00000487595
  gene symbol: NUPL2
  hgvsc: ENST00000487595.1:n.357C>G
  variant of: http://identifiers.org/hgnc/17010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro107Arg
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5535
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 451
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.329787234042553e-3
allele num: 2256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.002e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 7.08478e5

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10083
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

DP
type: SiteQuality
SIO_000300: 7.08478e5

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

QD
type: SiteQuality
SIO_000300: 1.002e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 26142
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 885
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.627394080092861e-5
allele num: 27568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 6.59428e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.152e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3507
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25327
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13521
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.80112513303938e-5
allele num: 26308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.46248e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.919e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3866
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 694
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 352
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 3.134550583810046e-4
allele num: 25522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.299e0

QD
type: SiteQuality
SIO_000300: 9.44e0

DP
type: SiteQuality
SIO_000300: 6.33992e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4350
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.349289454001496e-5
allele num: 10696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.143188597944978e-5
allele num: 24136
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

QD
type: SiteQuality
SIO_000300: 2.83e0

VQSLOD
type: SiteQuality
SIO_000300: -2.872e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.95e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.22353e5

GenotypeQuality
all individuals: 21523
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 497
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23294
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

DP
type: SiteQuality
SIO_000300: 6.14171e5

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 2414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele num: 3958
num of homozygotes: 0

Latino
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European (Finnish)
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MQ
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VQSLOD
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DP
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FS
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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DP
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.617657923900997e-5
allele num: 21656
num of homozygotes: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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South Asian
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African
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European (Finnish)
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DP
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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VQSLOD
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MQ
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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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variant carriers: 10376

European (Non-Finnish)
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allele num: 20202
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African
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allele frequency: 6.557555919258047e-1
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European (Finnish)
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Latino
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East Asian
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Other
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South Asian
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allele num: 10118
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QD
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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Other
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VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3076
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5870
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6675
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5209
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5374
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.081615277017576e-5
allele num: 32886
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.981767736821245e-4
allele num: 5046
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.061571125265393e-3
allele num: 2826
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.714089818306479e-4
allele num: 5834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

DP
type: SiteQuality
SIO_000300: 6.70415e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5481
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5860
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8084
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4418
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.963093835885355e-4
allele num: 5094
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 6.80147e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
all individuals: 1041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5333
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 5.675368898978433e-4
allele num: 5286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34310
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.163e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

DP
type: SiteQuality
SIO_000300: 7.57996e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
all individuals: 22227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
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variant carriers: 0

GenotypeQuality
all individuals: 290
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variant carriers: 0

GenotypeQuality
all individuals: 732
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variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
all individuals: 5709
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
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variant carriers: 2

GenotypeQuality
all individuals: 1417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.502063273727648e-5
allele num: 36350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

DP
type: SiteQuality
SIO_000300: 8.37013e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

GenotypeQuality
all individuals: 509
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4055
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21529
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variant carriers: 0

GenotypeQuality
all individuals: 298
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variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
all individuals: 296
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variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 21039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3589
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1765
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.768853034023149e-5
allele num: 11404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39302
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.049e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.18811e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.664e1

GenotypeQuality
all individuals: 1640
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3683
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21066
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
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variant carriers: 0

GenotypeQuality
all individuals: 22563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39988
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 2.216e1

DP
type: SiteQuality
SIO_000300: 9.3892e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

VQSLOD
type: SiteQuality
SIO_000300: -2.659e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.926e0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13421
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1103
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.994097471484406e-5
allele num: 50148
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 2.005e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.469e0

DP
type: SiteQuality
SIO_000300: 1.13688e6

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 725
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1112
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6509
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 320
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44583
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.023506533383371e-4
allele num: 58622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.558e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.436e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.087e0

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 1.267904e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
all individuals: 778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49584
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.199628022318661e-5
allele num: 16130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.85e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

DP
type: SiteQuality
SIO_000300: 1.346587e6

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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bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

European (Finnish)
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: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.199628022318661e-5
allele num: 16130
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.461e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.65e0

VQSLOD
type: SiteQuality
SIO_000300: -4.85e-2

DP
type: SiteQuality
SIO_000300: 1.346587e6

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e0

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
all individuals: 100
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variant carriers: 1

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

Latino
type: Population
allele count: 8
allele frequency: 7.02000702000702e-4
allele num: 11396
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.177024482109228e-4
allele num: 8496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.545592290675475e-5
allele num: 65998
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.168e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.306e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.968e0

DP
type: SiteQuality
SIO_000300: 1.380933e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
all individuals: 822
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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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variant carriers: 7

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.057721365971593e-4
allele num: 66180
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

QD
type: SiteQuality
SIO_000300: 1.429e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

DP
type: SiteQuality
SIO_000300: 1.384071e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 820
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GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 1.803e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 1.388299e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.604e0

QD
type: SiteQuality
SIO_000300: 1.287e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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QD
type: SiteQuality
SIO_000300: 7.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 3.56e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

FS
type: SiteQuality
SIO_000300: 4.922e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199832023516708e-4
allele num: 66676
num of homozygotes: 0

South Asian
type: Population
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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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.395781e6

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
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South Asian
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allele num: 16496
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-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
all individuals: 9
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GenotypeQuality
all individuals: 479
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

DP
type: SiteQuality
SIO_000300: 1.396296e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 9.89e-1

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

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 9.75e1
variant carriers: 657

GenotypeQuality
all individuals: 801
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 25
allele frequency: 2.162255665109843e-3
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473026163463765e-4
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 1.925298421255295e-3
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 579
allele frequency: 8.680659670164917e-3
allele num: 66700
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 26
allele frequency: 3.932244404113733e-3
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424242424242424e-4
allele num: 16500
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.483e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

DP
type: SiteQuality
SIO_000300: 1.430427e6

GenotypeQuality
all individuals: 52698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1205
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 847
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 483
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variant carriers: 0

GenotypeQuality
all individuals: 4176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.404664e6

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.097e0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 52698
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1205
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variant carriers: 32

GenotypeQuality
all individuals: 4176
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 483
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variant carriers: 0

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

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 32
allele frequency: 3.076923076923077e-3
allele num: 10400
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.404664e6

FS
type: SiteQuality
SIO_000300: 6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.097e0

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

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 4179
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 849
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 193
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variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 841
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.403159e6

QD
type: SiteQuality
SIO_000300: 1.004e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.122e0

FS
type: SiteQuality
SIO_000300: 5.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.267e0

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 4173
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variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 52690
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variant carriers: 0

GenotypeQuality
all individuals: 1219
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variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.983e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.406073e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e0

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 9.75e1
variant carriers: 43

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 2.692307692307692e-3
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198968886757389e-4
allele num: 66724
num of homozygotes: 0

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

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.983e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.331e1

DP
type: SiteQuality
SIO_000300: 1.406073e6

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 52717
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 849
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

QD
type: SiteQuality
SIO_000300: 1.934e1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.403728e6

VQSLOD
type: SiteQuality
SIO_000300: -2.308e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.135e0

GenotypeQuality
all individuals: 849
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1183
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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
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 221
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

DP
type: SiteQuality
SIO_000300: 1.403721e6

FS
type: SiteQuality
SIO_000300: 2.359e0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 8.6e0

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
all individuals: 10
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GenotypeQuality
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GenotypeQuality
all individuals: 850
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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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.341e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

FS
type: SiteQuality
SIO_000300: 9.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

DP
type: SiteQuality
SIO_000300: 1.403963e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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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bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.457e1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.404001e6

VQSLOD
type: SiteQuality
SIO_000300: -1.46e0

MQRankSum
type: SiteQuality
SIO_000300: -5.921e0

FS
type: SiteQuality
SIO_000300: 2.2231e1

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
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.729e0

VQSLOD
type: SiteQuality
SIO_000300: 7.99e-1

FS
type: SiteQuality
SIO_000300: 9.05e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.403991e6

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 4

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 1.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.701161499444761e-4
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.886280546469117e-4
allele num: 10394
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.417281e6

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 7.1e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.67e-1

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 19
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GenotypeQuality
all individuals: 1126
bin: 9.75e1
variant carriers: 8

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.240368306275745e-4
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 1.251e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.417605e6

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

GenotypeQuality
all individuals: 6
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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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variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.417605e6

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

BaseQRankSum
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SIO_000300: -1.437e0

GenotypeQuality
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bin: 2.25e1
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: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.40803e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.53e-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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bin: 7.25e1
variant carriers: 0

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

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

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

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

Latino
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allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5
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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: 10404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.40763e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.313e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.313e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.40763e6

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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
all individuals: 6
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 7.056e0

QD
type: SiteQuality
SIO_000300: 1.492e1

DP
type: SiteQuality
SIO_000300: 1.407935e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.229e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.401e0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 9.75e1
variant carriers: 4

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.432e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

DP
type: SiteQuality
SIO_000300: 1.407957e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.296e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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: 0
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.795e0

MQRankSum
type: SiteQuality
SIO_000300: -6.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

DP
type: SiteQuality
SIO_000300: 1.408022e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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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bin: 6.75e1
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 1.408346e6

QD
type: SiteQuality
SIO_000300: 1.387e1

FS
type: SiteQuality
SIO_000300: 5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.996e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e0

GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.408252e6

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.862e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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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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GenotypeQuality
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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: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.408317e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.447e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.51e0

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.935e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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: 6.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.186e1

FS
type: SiteQuality
SIO_000300: 7.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

DP
type: SiteQuality
SIO_000300: 1.408181e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
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bin: 3.75e1
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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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

FS
type: SiteQuality
SIO_000300: 7.531e0

DP
type: SiteQuality
SIO_000300: 1.408181e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

East Asian
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allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
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MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

DP
type: SiteQuality
SIO_000300: 1.408595e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.40813e6

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

FS
type: SiteQuality
SIO_000300: 6.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

QD
type: SiteQuality
SIO_000300: 1.069e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

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
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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: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.894e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 1.4081e6

QD
type: SiteQuality
SIO_000300: 1.59e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 7.82e-1

GenotypeQuality
all individuals: 489
bin: 8.25e1
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: 6.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.303e1

DP
type: SiteQuality
SIO_000300: 1.408192e6

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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.122e0

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.375e1

FS
type: SiteQuality
SIO_000300: 1.742e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 33

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.095006893244621e-4
allele num: 66732
num of homozygotes: 1

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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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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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.408297e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

GenotypeQuality
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bin: 2.75e1
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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GenotypeQuality
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GenotypeQuality
all individuals: 488
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variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.734e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.86e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.843e1

DP
type: SiteQuality
SIO_000300: 1.408e6

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

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

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.347e0

DP
type: SiteQuality
SIO_000300: 1.408059e6

QD
type: SiteQuality
SIO_000300: 1.133e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.282e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.821e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 1.409396e6

QD
type: SiteQuality
SIO_000300: 1.336e1