http://identifiers.org/exac.variant/12-76449775-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449775
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449775
    reference: chr 12
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.441+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.9+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.558+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.477+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.558+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.435+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.376+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.558+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.558+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.558+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.9+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.435+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.576+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.432+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.540+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.591+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.369+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.354+38G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.579+38G>T
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-76449782-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449782
    reference: chr 12
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.579+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.558+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.376+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.558+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.558+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.477+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.558+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.435+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.435+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.540+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.9+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.576+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.9+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.558+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.591+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.441+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.432+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.369+31T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.354+31T>G
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-76449794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449794
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449794
    reference: chr 12
allele count: 8
allele frequency: 6.601204719861374e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.9+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.441+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.558+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.558+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.354+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.558+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.477+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.432+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.558+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.591+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.558+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.435+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.9+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.435+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.376+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.540+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.576+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.579+19G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.369+19G>A
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum

12-76449800-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449800
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449800
    reference: chr 12
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.441+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.540+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.435+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.369+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.9+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.579+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.376+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.591+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.558+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.558+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.432+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.477+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.558+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.558+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.9+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.354+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.558+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.576+13A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.435+13A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-76449804-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449804
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449804
    reference: chr 12
allele count: 2
allele frequency: 1.649974425396406e-5
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.579+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.9+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.376+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.558+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.432+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.435+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.558+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.558+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.441+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.591+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.354+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.477+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.540+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.558+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.9+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.576+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.435+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.369+9A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.558+9A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-76449806-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449806
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449806
    reference: chr 12
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.591+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.576+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.558+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.558+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.9+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.558+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.558+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.558+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.376+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.369+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.432+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.477+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.435+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.579+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.435+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.441+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.9+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.354+7T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.540+7T>G
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.558+7T>G
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

12-76449820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449820
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449820
    reference: chr 12
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.428T>C
  hgvsp: ENSP00000449649.1:p.Met143Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.551T>C
  hgvsp: ENSP00000448764.1:p.Met184Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.2T>C
  hgvsp: ENSP00000437507.1:p.Met1?
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.362T>C
  hgvsp: ENSP00000448167.1:p.Met121Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.425T>C
  hgvsp: ENSP00000444759.1:p.Met142Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.470T>C
  hgvsp: ENSP00000448133.1:p.Met157Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.551T>C
  hgvsp: ENSP00000261182.8:p.Met184Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.428T>C
  hgvsp: ENSP00000446787.1:p.Met143Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.347T>C
  hgvsp: ENSP00000409795.3:p.Met116Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.551T>C
  hgvsp: ENSP00000447793.1:p.Met184Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.434T>C
  hgvsp: ENSP00000446804.1:p.Met145Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.551T>C
  hgvsp: ENSP00000445008.2:p.Met184Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.533T>C
  hgvsp: ENSP00000450236.1:p.Met178Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.572T>C
  hgvsp: ENSP00000446756.1:p.Met191Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.2T>C
  hgvsp: ENSP00000448007.1:p.Met1?
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.569T>C
  hgvsp: ENSP00000448836.1:p.Met190Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.584T>C
  hgvsp: ENSP00000447196.1:p.Met195Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.369T>C
  hgvsp: ENSP00000446520.1:p.Met124Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.551T>C
  hgvsp: ENSP00000376947.3:p.Met184Thr
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-76449827-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449827
    reference: chr 12
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.362A>G
  hgvsp: ENSP00000446520.1:p.Ser122Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-6A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.577A>G
  hgvsp: ENSP00000447196.1:p.Ser193Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-6A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.544A>G
  hgvsp: ENSP00000447793.1:p.Ser182Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.421A>G
  hgvsp: ENSP00000449649.1:p.Ser141Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.544A>G
  hgvsp: ENSP00000261182.8:p.Ser182Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.340A>G
  hgvsp: ENSP00000409795.3:p.Ser114Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.427A>G
  hgvsp: ENSP00000446804.1:p.Ser143Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.526A>G
  hgvsp: ENSP00000450236.1:p.Ser176Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.418A>G
  hgvsp: ENSP00000444759.1:p.Ser140Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.463A>G
  hgvsp: ENSP00000448133.1:p.Ser155Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.565A>G
  hgvsp: ENSP00000446756.1:p.Ser189Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.544A>G
  hgvsp: ENSP00000376947.3:p.Ser182Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.562A>G
  hgvsp: ENSP00000448836.1:p.Ser188Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.544A>G
  hgvsp: ENSP00000445008.2:p.Ser182Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.544A>G
  hgvsp: ENSP00000448764.1:p.Ser182Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.355A>G
  hgvsp: ENSP00000448167.1:p.Ser119Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.421A>G
  hgvsp: ENSP00000446787.1:p.Ser141Gly
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser182Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-76449834-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449834
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449834
    reference: chr 12
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.414C>G
  hgvsp: ENSP00000449649.1:p.Asp138Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.333C>G
  hgvsp: ENSP00000409795.3:p.Asp111Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.411C>G
  hgvsp: ENSP00000444759.1:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.558C>G
  hgvsp: ENSP00000446756.1:p.Asp186Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.570C>G
  hgvsp: ENSP00000447196.1:p.Asp190Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.519C>G
  hgvsp: ENSP00000450236.1:p.Asp173Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.414C>G
  hgvsp: ENSP00000446787.1:p.Asp138Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.420C>G
  hgvsp: ENSP00000446804.1:p.Asp140Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.537C>G
  hgvsp: ENSP00000261182.8:p.Asp179Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.555C>G
  hgvsp: ENSP00000448836.1:p.Asp185Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.355C>G
  hgvsp: ENSP00000446520.1:p.Asp119Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.537C>G
  hgvsp: ENSP00000445008.2:p.Asp179Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.348C>G
  hgvsp: ENSP00000448167.1:p.Asp116Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.456C>G
  hgvsp: ENSP00000448133.1:p.Asp152Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.537C>G
  hgvsp: ENSP00000448764.1:p.Asp179Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.537C>G
  hgvsp: ENSP00000447793.1:p.Asp179Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.537C>G
  hgvsp: ENSP00000376947.3:p.Asp179Glu
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp179Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-76449841-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449841
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449841
    reference: chr 12
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.404A>G
  hgvsp: ENSP00000444759.1:p.Asn135Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.530A>G
  hgvsp: ENSP00000261182.8:p.Asn177Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.348A>G
  hgvsp: ENSP00000446520.1:p.Asn117Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.530A>G
  hgvsp: ENSP00000447793.1:p.Asn177Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.341A>G
  hgvsp: ENSP00000448167.1:p.Asn114Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.530A>G
  hgvsp: ENSP00000376947.3:p.Asn177Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.563A>G
  hgvsp: ENSP00000447196.1:p.Asn188Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.413A>G
  hgvsp: ENSP00000446804.1:p.Asn138Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.449A>G
  hgvsp: ENSP00000448133.1:p.Asn150Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.407A>G
  hgvsp: ENSP00000449649.1:p.Asn136Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.551A>G
  hgvsp: ENSP00000446756.1:p.Asn184Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.530A>G
  hgvsp: ENSP00000445008.2:p.Asn177Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.548A>G
  hgvsp: ENSP00000448836.1:p.Asn183Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.407A>G
  hgvsp: ENSP00000446787.1:p.Asn136Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.326A>G
  hgvsp: ENSP00000409795.3:p.Asn109Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-20A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-20A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.530A>G
  hgvsp: ENSP00000448764.1:p.Asn177Ser
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.512A>G
  hgvsp: ENSP00000450236.1:p.Asn171Ser
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn177Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

12-76449843-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449843
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449843
    reference: chr 12
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.528G>C
  hgvsp: ENSP00000261182.8:p.Lys176Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.447G>C
  hgvsp: ENSP00000448133.1:p.Lys149Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.411G>C
  hgvsp: ENSP00000446804.1:p.Lys137Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.528G>C
  hgvsp: ENSP00000448764.1:p.Lys176Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.510G>C
  hgvsp: ENSP00000450236.1:p.Lys170Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.528G>C
  hgvsp: ENSP00000445008.2:p.Lys176Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.405G>C
  hgvsp: ENSP00000446787.1:p.Lys135Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.561G>C
  hgvsp: ENSP00000447196.1:p.Lys187Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.405G>C
  hgvsp: ENSP00000449649.1:p.Lys135Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.528G>C
  hgvsp: ENSP00000376947.3:p.Lys176Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.549G>C
  hgvsp: ENSP00000446756.1:p.Lys183Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.346G>C
  hgvsp: ENSP00000446520.1:p.Lys116Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.402G>C
  hgvsp: ENSP00000444759.1:p.Lys134Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.324G>C
  hgvsp: ENSP00000409795.3:p.Lys108Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.528G>C
  hgvsp: ENSP00000447793.1:p.Lys176Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.546G>C
  hgvsp: ENSP00000448836.1:p.Lys182Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.339G>C
  hgvsp: ENSP00000448167.1:p.Lys113Asn
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys176Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-76449846-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449846
    reference: chr 12
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.444T>G
  hgvsp: ENSP00000448133.1:p.Phe148Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.525T>G
  hgvsp: ENSP00000448764.1:p.Phe175Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.543T>G
  hgvsp: ENSP00000448836.1:p.Phe181Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.402T>G
  hgvsp: ENSP00000446787.1:p.Phe134Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.525T>G
  hgvsp: ENSP00000261182.8:p.Phe175Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.321T>G
  hgvsp: ENSP00000409795.3:p.Phe107Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.399T>G
  hgvsp: ENSP00000444759.1:p.Phe133Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.558T>G
  hgvsp: ENSP00000447196.1:p.Phe186Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.525T>G
  hgvsp: ENSP00000445008.2:p.Phe175Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.343T>G
  hgvsp: ENSP00000446520.1:p.Phe115Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.402T>G
  hgvsp: ENSP00000449649.1:p.Phe134Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.336T>G
  hgvsp: ENSP00000448167.1:p.Phe112Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.507T>G
  hgvsp: ENSP00000450236.1:p.Phe169Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-25T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.546T>G
  hgvsp: ENSP00000446756.1:p.Phe182Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.525T>G
  hgvsp: ENSP00000376947.3:p.Phe175Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-25T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.525T>G
  hgvsp: ENSP00000447793.1:p.Phe175Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.408T>G
  hgvsp: ENSP00000446804.1:p.Phe136Leu
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe175Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-76449852-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449852
    reference: chr 12
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.552T>C
  hgvsp: ENST00000552342.1:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.330T>C
  hgvsp: ENST00000547773.1:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.501T>C
  hgvsp: ENST00000552056.1:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.540T>C
  hgvsp: ENST00000547704.1:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.519T>C
  hgvsp: ENST00000535020.2:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.396T>C
  hgvsp: ENST00000548044.1:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.315T>C
  hgvsp: ENST00000431879.3:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.396T>C
  hgvsp: ENST00000548273.1:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.337T>C
  hgvsp: ENST00000547529.2:c.337T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.438T>C
  hgvsp: ENST00000550934.1:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.519T>C
  hgvsp: ENST00000261182.8:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.519T>C
  hgvsp: ENST00000549596.1:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.519T>C
  hgvsp: ENST00000393263.3:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.537T>C
  hgvsp: ENST00000551600.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.519T>C
  hgvsp: ENST00000551992.1:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.402T>C
  hgvsp: ENST00000552147.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.393T>C
  hgvsp: ENST00000542344.1:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr173Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-76449854-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449854
    reference: chr 12
allele count: 3
allele frequency: 2.47614645580904e-5
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.391A>G
  hgvsp: ENSP00000444759.1:p.Thr131Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.400A>G
  hgvsp: ENSP00000446804.1:p.Thr134Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.517A>G
  hgvsp: ENSP00000376947.3:p.Thr173Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.394A>G
  hgvsp: ENSP00000446787.1:p.Thr132Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.538A>G
  hgvsp: ENSP00000446756.1:p.Thr180Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.535A>G
  hgvsp: ENSP00000448836.1:p.Thr179Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.517A>G
  hgvsp: ENSP00000445008.2:p.Thr173Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.394A>G
  hgvsp: ENSP00000449649.1:p.Thr132Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.550A>G
  hgvsp: ENSP00000447196.1:p.Thr184Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.313A>G
  hgvsp: ENSP00000409795.3:p.Thr105Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.517A>G
  hgvsp: ENSP00000261182.8:p.Thr173Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.436A>G
  hgvsp: ENSP00000448133.1:p.Thr146Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.335A>G
  hgvsp: ENSP00000446520.1:p.Thr113Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.499A>G
  hgvsp: ENSP00000450236.1:p.Thr167Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.328A>G
  hgvsp: ENSP00000448167.1:p.Thr110Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.517A>G
  hgvsp: ENSP00000448764.1:p.Thr173Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.517A>G
  hgvsp: ENSP00000447793.1:p.Thr173Ala
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr173Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-76449884-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449884
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449884
    reference: chr 12
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.487G>A
  hgvsp: ENSP00000447793.1:p.Asp163Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.469G>A
  hgvsp: ENSP00000450236.1:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.487G>A
  hgvsp: ENSP00000376947.3:p.Asp163Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.283G>A
  hgvsp: ENSP00000409795.3:p.Asp95Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.298G>A
  hgvsp: ENSP00000448167.1:p.Asp100Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.487G>A
  hgvsp: ENSP00000445008.2:p.Asp163Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.361G>A
  hgvsp: ENSP00000444759.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.487G>A
  hgvsp: ENSP00000261182.8:p.Asp163Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.305G>A
  hgvsp: ENSP00000446520.1:p.Asp103Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.364G>A
  hgvsp: ENSP00000449649.1:p.Asp122Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.364G>A
  hgvsp: ENSP00000446787.1:p.Asp122Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.406G>A
  hgvsp: ENSP00000448133.1:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.520G>A
  hgvsp: ENSP00000447196.1:p.Asp174Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.370G>A
  hgvsp: ENSP00000446804.1:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.505G>A
  hgvsp: ENSP00000448836.1:p.Asp169Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.508G>A
  hgvsp: ENSP00000446756.1:p.Asp170Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.487G>A
  hgvsp: ENSP00000448764.1:p.Asp163Asn
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp163Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-76449897-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449897
    reference: chr 12
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.351T>G
  hgvsp: ENSP00000449649.1:p.Asp117Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.456T>G
  hgvsp: ENSP00000450236.1:p.Asp152Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.474T>G
  hgvsp: ENSP00000448764.1:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.495T>G
  hgvsp: ENSP00000446756.1:p.Asp165Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.292T>G
  hgvsp: ENSP00000446520.1:p.Asp98Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.348T>G
  hgvsp: ENSP00000444759.1:p.Asp116Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.492T>G
  hgvsp: ENSP00000448836.1:p.Asp164Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.474T>G
  hgvsp: ENSP00000376947.3:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-76T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.393T>G
  hgvsp: ENSP00000448133.1:p.Asp131Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.357T>G
  hgvsp: ENSP00000446804.1:p.Asp119Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.507T>G
  hgvsp: ENSP00000447196.1:p.Asp169Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.474T>G
  hgvsp: ENSP00000447793.1:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.285T>G
  hgvsp: ENSP00000448167.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.474T>G
  hgvsp: ENSP00000445008.2:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.474T>G
  hgvsp: ENSP00000261182.8:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.351T>G
  hgvsp: ENSP00000446787.1:p.Asp117Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.270T>G
  hgvsp: ENSP00000409795.3:p.Asp90Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-76T>G
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp158Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-76449897-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449897
    reference: chr 12
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.495T>A
  hgvsp: ENSP00000446756.1:p.Asp165Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.474T>A
  hgvsp: ENSP00000261182.8:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.285T>A
  hgvsp: ENSP00000448167.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.474T>A
  hgvsp: ENSP00000448764.1:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.492T>A
  hgvsp: ENSP00000448836.1:p.Asp164Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.292T>A
  hgvsp: ENSP00000446520.1:p.Asp98Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.348T>A
  hgvsp: ENSP00000444759.1:p.Asp116Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.393T>A
  hgvsp: ENSP00000448133.1:p.Asp131Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.474T>A
  hgvsp: ENSP00000376947.3:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-76T>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.357T>A
  hgvsp: ENSP00000446804.1:p.Asp119Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.507T>A
  hgvsp: ENSP00000447196.1:p.Asp169Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.351T>A
  hgvsp: ENSP00000446787.1:p.Asp117Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.474T>A
  hgvsp: ENSP00000445008.2:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.474T>A
  hgvsp: ENSP00000447793.1:p.Asp158Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.351T>A
  hgvsp: ENSP00000449649.1:p.Asp117Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.456T>A
  hgvsp: ENSP00000450236.1:p.Asp152Glu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-76T>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.270T>A
  hgvsp: ENSP00000409795.3:p.Asp90Glu
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp158Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-76449899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449899
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449899
    reference: chr 12
allele count: 5
allele frequency: 4.143325930591004e-5
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.283G>A
  hgvsp: ENSP00000448167.1:p.Asp95Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.472G>A
  hgvsp: ENSP00000447793.1:p.Asp158Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.454G>A
  hgvsp: ENSP00000450236.1:p.Asp152Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.472G>A
  hgvsp: ENSP00000448764.1:p.Asp158Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.349G>A
  hgvsp: ENSP00000449649.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.472G>A
  hgvsp: ENSP00000261182.8:p.Asp158Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.355G>A
  hgvsp: ENSP00000446804.1:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.346G>A
  hgvsp: ENSP00000444759.1:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.391G>A
  hgvsp: ENSP00000448133.1:p.Asp131Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.268G>A
  hgvsp: ENSP00000409795.3:p.Asp90Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.290G>A
  hgvsp: ENSP00000446520.1:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.472G>A
  hgvsp: ENSP00000445008.2:p.Asp158Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.349G>A
  hgvsp: ENSP00000446787.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.505G>A
  hgvsp: ENSP00000447196.1:p.Asp169Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.472G>A
  hgvsp: ENSP00000376947.3:p.Asp158Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.493G>A
  hgvsp: ENSP00000446756.1:p.Asp165Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.490G>A
  hgvsp: ENSP00000448836.1:p.Asp164Asn
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp158Asn
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

12-76449900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449900
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449900
    reference: chr 12
allele count: 104477
allele frequency: 8.650476915943565e-1
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.345A>G
  hgvsp: ENST00000542344.1:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.471A>G
  hgvsp: ENST00000551992.1:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.390A>G
  hgvsp: ENST00000550934.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-79A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.471A>G
  hgvsp: ENST00000393263.3:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.348A>G
  hgvsp: ENST00000548044.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.471A>G
  hgvsp: ENST00000261182.8:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.289A>G
  hgvsp: ENST00000547529.2:c.289A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.489A>G
  hgvsp: ENST00000551600.1:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.471A>G
  hgvsp: ENST00000549596.1:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.492A>G
  hgvsp: ENST00000547704.1:c.492A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.471A>G
  hgvsp: ENST00000535020.2:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.267A>G
  hgvsp: ENST00000431879.3:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.348A>G
  hgvsp: ENST00000548273.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.354A>G
  hgvsp: ENST00000552147.1:c.354A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.504A>G
  hgvsp: ENST00000552342.1:c.504A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.453A>G
  hgvsp: ENST00000552056.1:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.282A>G
  hgvsp: ENST00000547773.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-79A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys157Lys
num of homozygotes: 45501
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-76449900-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449900
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449900
    reference: chr 12
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.471A>C
  hgvsp: ENSP00000261182.8:p.Lys157Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.453A>C
  hgvsp: ENSP00000450236.1:p.Lys151Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.492A>C
  hgvsp: ENSP00000446756.1:p.Lys164Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.471A>C
  hgvsp: ENSP00000447793.1:p.Lys157Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.471A>C
  hgvsp: ENSP00000448764.1:p.Lys157Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.282A>C
  hgvsp: ENSP00000448167.1:p.Lys94Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.345A>C
  hgvsp: ENSP00000444759.1:p.Lys115Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.348A>C
  hgvsp: ENSP00000446787.1:p.Lys116Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.390A>C
  hgvsp: ENSP00000448133.1:p.Lys130Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.289A>C
  hgvsp: ENSP00000446520.1:p.Lys97Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.471A>C
  hgvsp: ENSP00000445008.2:p.Lys157Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.354A>C
  hgvsp: ENSP00000446804.1:p.Lys118Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.267A>C
  hgvsp: ENSP00000409795.3:p.Lys89Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.471A>C
  hgvsp: ENSP00000376947.3:p.Lys157Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.348A>C
  hgvsp: ENSP00000449649.1:p.Lys116Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.504A>C
  hgvsp: ENSP00000447196.1:p.Lys168Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-79A>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.489A>C
  hgvsp: ENSP00000448836.1:p.Lys163Asn
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-79A>C
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys157Asn
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-76449916-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449916
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449916
    reference: chr 12
allele count: 3
allele frequency: 2.531816493940519e-5
allele num: 118492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.332T>C
  hgvsp: ENSP00000448661.1:p.Ile111Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.332T>C
  hgvsp: ENSP00000449649.1:p.Ile111Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.455T>C
  hgvsp: ENSP00000448764.1:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.455T>C
  hgvsp: ENSP00000376947.3:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.455T>C
  hgvsp: ENSP00000445008.2:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.437T>C
  hgvsp: ENSP00000450236.1:p.Ile146Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.455T>C
  hgvsp: ENSP00000447793.1:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.488T>C
  hgvsp: ENSP00000447196.1:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.332T>C
  hgvsp: ENSP00000446787.1:p.Ile111Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.273T>C
  hgvsp: ENSP00000446520.1:p.Ile92Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.455T>C
  hgvsp: ENSP00000261182.8:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.251T>C
  hgvsp: ENSP00000409795.3:p.Ile84Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.338T>C
  hgvsp: ENSP00000446804.1:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.476T>C
  hgvsp: ENSP00000446756.1:p.Ile159Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.266T>C
  hgvsp: ENSP00000448167.1:p.Ile89Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.473T>C
  hgvsp: ENSP00000448836.1:p.Ile158Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-95T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.329T>C
  hgvsp: ENSP00000444759.1:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-95T>C
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile152Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-76449942-CTTGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449942
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449938
    reference: chr 12
allele count: 2
allele frequency: 1.712856702408277e-5
allele num: 116764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-5_349-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-8_307-5delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-125_-122delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-5_307-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-8_316-5delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-5_-120-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-5_307-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-5_307-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-5_430-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-5_248-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-5_226-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-5_463-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-5_451-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-5_430-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-5_430-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-5_430-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-5_412-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.448-5_448-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-5_430-2delTCAA
  variant of: http://identifiers.org/hgnc/7637
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.430-5_430-2delTCAA
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: CTTGA
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-76449954-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449954
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449954
    reference: chr 12
allele count: 4
allele frequency: 3.456738912509938e-5
allele num: 115716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-133T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-16T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.448-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-13T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-16T>C
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

12-76449963-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449963
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449962
    reference: chr 12
allele count: 1
allele frequency: 8.701099819017123e-6
allele num: 114928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-26delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-143delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-26delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.448-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-23delA
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-23delA
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: AT
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-76449972-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449972
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449972
    reference: chr 12
allele count: 5
allele frequency: 4.377133852753217e-5
allele num: 114230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-151A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-34A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-34A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.448-31A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-31A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14983
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-76449973-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449973
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449973
    reference: chr 12
allele count: 3
allele frequency: 2.627154266498529e-5
allele num: 114192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.448-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-35T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-35T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-152T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-32T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-32T>C
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-76449976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449976
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449976
    reference: chr 12
allele count: 7
allele frequency: 6.14768495749315e-5
allele num: 113864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-38A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-155A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.448-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-38A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-35A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-35A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-76449989-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449989
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449989
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 111026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-168T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.448-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-51T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-48T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-51T>C
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

12-76449990-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76449990
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76449990
    reference: chr 12
allele count: 1
allele frequency: 9.006088115566123e-6
allele num: 111036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-52A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-169A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-52A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.448-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-49A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-76450304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450304
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450304
    reference: chr 12
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-366G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-366G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.447+50G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-483G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-363G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-363G>A
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

12-76450307-TACC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450307
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450304
    reference: chr 12
allele count: 1
allele frequency: 9.516558812333461e-5
allele num: 10508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-369_248-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-369_307-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-369_430-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-369_226-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-369_-120-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-489_-487delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-372_307-370delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-369_349-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-369_307-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-369_463-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-369_307-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.447+44_447+46delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-369_430-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-369_451-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-369_412-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-369_430-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-369_430-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-372_316-370delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-369_241-367delGGT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-369_430-367delGGT
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: TACC
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-76450333-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450333
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450333
    reference: chr 12
allele count: 3
allele frequency: 2.817959797106895e-4
allele num: 10646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-512A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-395A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-395A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.447+21A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-392A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-392A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-76450339-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450339
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450339
    reference: chr 12
allele count: 1
allele frequency: 9.365049634763064e-5
allele num: 10678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-401C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.447+15C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-518C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-401C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-398C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-398C>A
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-76450376-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450376
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-438C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.425C>G
  hgvsp: ENSP00000448836.1:p.Ala142Gly
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-438C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-435C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-555C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-435C>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala142Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-76450395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450395
    reference: chr 12
allele count: 1
allele frequency: 9.291953168556031e-5
allele num: 10762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-457A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.406A>G
  hgvsp: ENSP00000448836.1:p.Thr136Ala
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-457A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-574A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-454A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-454A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr136Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-76450428-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450428
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-490G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-607G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.373G>T
  hgvsp: ENSP00000448836.1:p.Val125Leu
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-490G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-487G>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-487G>T
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val125Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

12-76450432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450432
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450432
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.369T>C
  hgvsp: ENST00000551600.1:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-494T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-494T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-611T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-491T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-491T>C
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe123Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/12-76450435-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450435
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450435
    reference: chr 12
allele count: 10
allele frequency: 9.290226681531029e-4
allele num: 10764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-497T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.366T>G
  hgvsp: ENSP00000448836.1:p.His122Gln
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-497T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-614T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-494T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-494T>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His122Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-76450460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450460
    reference: chr 12
allele count: 1
allele frequency: 9.338812103100486e-5
allele num: 10708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-522C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-8C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-522C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-639C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-519C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-519C>T
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.349-8C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-76450465-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450464
    reference: chr 12
allele count: 4543
allele frequency: 4.695121951219512e-1
allele num: 9676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-14delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-528delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-645delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-528delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-525delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-525delT
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 1083
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TA
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-76450465-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450463
    reference: chr 12
allele count: 243
allele frequency: 2.511368334022323e-2
allele num: 9676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-526_349-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-526_307-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-526_430-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-526_248-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-526_430-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-526_-120-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-526_226-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-529_307-528delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-526_307-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-526_463-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-526_451-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-529_316-528delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-646_-645delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-526_430-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-526_430-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-526_241-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-15_349-14delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-526_307-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-526_430-525delTT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-526_412-525delTT
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: TAA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

12-76450465-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76450465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76450466
    reference: chr 12
allele count: 40
allele frequency: 4.13393964448119e-3
allele num: 9676
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-528dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-645dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-14dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-528dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.463-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-525dupT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-525dupT
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-76451491-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451491
    reference: chr 12
allele count: 1
allele frequency: 4.135307253328923e-5
allele num: 24182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1670C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1039C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.174G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.462+33C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1550C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1550C>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS

12-76451494-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451494
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451494
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 24062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.462+30C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1673C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1556C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.177G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1556C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1042C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1553C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1553C>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-76451510-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451510
    reference: chr 12
allele count: 1
allele frequency: 4.287429257417253e-5
allele num: 23324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1058A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.193T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.462+14A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1572A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1689A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1569A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1572A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/12-76451514-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451514
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451513
    reference: chr 12
allele count: 1
allele frequency: 4.304778303917348e-5
allele num: 23230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1694delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1577delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.462+9delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.201delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1574delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1063delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1577delT
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1574delT
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: CA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-76451525-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451525
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451525
    reference: chr 12
allele count: 1
allele frequency: 4.332755632582323e-5
allele num: 23080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.208G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1587C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1704C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1073C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.461C>A
  hgvsp: ENSP00000447196.1:p.Thr154Lys
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1587C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1584C>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1584C>A
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr154Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-76451546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451546
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451546
    reference: chr 12
allele count: 1
allele frequency: 4.345558838866679e-5
allele num: 23012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.229G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1094C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1608C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1608C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.440C>T
  hgvsp: ENSP00000447196.1:p.Ser147Phe
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1725C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1605C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1605C>T
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser147Phe
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-76451560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451560
    reference: chr 12
allele count: 2
allele frequency: 8.673026886383348e-5
allele num: 23060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.430-4A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.243T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1622A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1622A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1739A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1108A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1619A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1619A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.430-4A>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-76451564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451564
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 23084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.430-8C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1626C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1743C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.247G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1623C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1626C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1112C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1623C>T
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.430-8C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-76451564-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451564
    reference: chr 12
allele count: 1
allele frequency: 4.332004851845434e-5
allele num: 23084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1626C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.247G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1112C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.430-8C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1743C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1626C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1623C>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1623C>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.430-8C>G
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

12-76451587-AGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451584
    reference: chr 12
allele count: 1
allele frequency: 4.268396790165614e-5
allele num: 23428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1649_430-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1769_-1767delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1649_248-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1649_430-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1649_451-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1649_307-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1652_316-1650delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1649_430-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.430-34_430-32delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1649_226-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1652_307-1650delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1649_-120-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1649_430-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.274_276delGAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1649_307-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1138_349-1136delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1649_307-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1649_430-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1649_412-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1649_349-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1649_241-1647delCTC
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: AGAG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-76451601-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76451601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76451601
    reference: chr 12
allele count: 1
allele frequency: 4.224400135180804e-5
allele num: 23672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-120-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.307-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.430-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.226-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.430-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257941
  ensembl transcript: ENST00000552477
  gene symbol: RP11-290L1.4
  hgvsc: ENST00000552477.1:n.284A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.451-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448007
  ensembl transcript: ENST00000547993
  gene symbol: NAP1L1
  hgvsc: ENST00000547993.1:c.-1780T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.430-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.430-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.430-45T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.349-1149T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.349-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.430-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.307-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.307-1663T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.307-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.316-1663T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.241-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.412-1660T>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.248-1660T>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

12-76453508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76453508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76453508
    reference: chr 12
allele count: 2
allele frequency: 1.820333120961136e-5
allele num: 109870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.429+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187109
  ensembl transcript: ENST00000549988
  gene symbol: NAP1L1
  hgvsc: ENST00000549988.1:n.412A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.247+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.348+410A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.315+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.429+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.429+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.450+49A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.306+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.240+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.306+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.306+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.348+410A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.429+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.306+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.429+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.225+410A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.411+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-121+70A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.429+70A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-76453509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76453509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76453509
    reference: chr 12
allele count: 5
allele frequency: 4.566960778940831e-5
allele num: 109482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-121+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.306+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.348+409C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.411+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.429+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.315+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.429+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.225+409C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187109
  ensembl transcript: ENST00000549988
  gene symbol: NAP1L1
  hgvsc: ENST00000549988.1:n.411C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.429+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.306+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.450+48C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.429+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.429+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.306+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.247+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.348+409C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.240+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.306+69C>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.429+69C>T
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-76453510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76453510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76453510
    reference: chr 12
allele count: 142
allele frequency: 1.295265894371978e-3
allele num: 109630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.429+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.429+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.247+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.429+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.306+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.306+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.429+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.450+47G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.306+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.429+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.348+408G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187109
  ensembl transcript: ENST00000549988
  gene symbol: NAP1L1
  hgvsc: ENST00000549988.1:n.410G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.306+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.240+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.429+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.315+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.225+408G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.348+408G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-121+68G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.411+68G>A
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

12-76453522-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76453522
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76453522
    reference: chr 12
allele count: 1
allele frequency: 9.063389345079487e-6
allele num: 110334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.315+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187109
  ensembl transcript: ENST00000549988
  gene symbol: NAP1L1
  hgvsc: ENST00000549988.1:n.398T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.429+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.429+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.429+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.429+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.429+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.306+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.348+396T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.306+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.247+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-121+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.348+396T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.240+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.429+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.306+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.411+56T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.450+35T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.225+396T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.306+56T>C
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-76453540-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76453540
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76453540
    reference: chr 12
allele count: 5
allele frequency: 4.406451044328897e-5
allele num: 113470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-121+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.315+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.429+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.450+17A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.247+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.348+378A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.429+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.306+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.240+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.306+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.429+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.225+378A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187109
  ensembl transcript: ENST00000549988
  gene symbol: NAP1L1
  hgvsc: ENST00000549988.1:n.380A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.411+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.429+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.306+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.429+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.306+38A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.348+378A>T
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.429+38A>T
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-76453554-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76453554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76453554
    reference: chr 12
allele count: 2
allele frequency: 1.698369565217391e-5
allele num: 117760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.429+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.306+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.348+364A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187109
  ensembl transcript: ENST00000549988
  gene symbol: NAP1L1
  hgvsc: ENST00000549988.1:n.366A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.315+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-121+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.306+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.429+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.429+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.429+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.348+364A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.450+3A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.411+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.306+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.247+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.429+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.429+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.225+364A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.240+24A>G
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.306+24A>G
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.450+3A>G
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-76453556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76453556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76453556
    reference: chr 12
allele count: 1
allele frequency: 8.461668641056017e-6
allele num: 118180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.429+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.306+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187109
  ensembl transcript: ENST00000549988
  gene symbol: NAP1L1
  hgvsc: ENST00000549988.1:n.364G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.429+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-121+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.306+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.348+362G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.429+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.450+1G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.240+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.315+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.348+362G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.306+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.411+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.225+362G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.429+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.306+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.429+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.429+22G>A
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.247+22G>A
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.450+1G>A
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

12-76453563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76453563
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 76453563
    reference: chr 12
allele count: 2
allele frequency: 1.676530252988415e-5
allele num: 119294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448167
  ensembl transcript: ENST00000547773
  gene symbol: NAP1L1
  hgvsc: ENST00000547773.1:c.240+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446787
  ensembl transcript: ENST00000548273
  gene symbol: NAP1L1
  hgvsc: ENST00000548273.1:c.306+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448661
  ensembl transcript: ENST00000551524
  gene symbol: NAP1L1
  hgvsc: ENST00000551524.1:c.306+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446520
  ensembl transcript: ENST00000547529
  gene symbol: NAP1L1
  hgvsc: ENST00000547529.2:c.247+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446756
  ensembl transcript: ENST00000547704
  gene symbol: NAP1L1
  hgvsc: ENST00000547704.1:c.444T>C
  hgvsp: ENST00000547704.1:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000450236
  ensembl transcript: ENST00000552056
  gene symbol: NAP1L1
  hgvsc: ENST00000552056.1:c.411+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000449649
  ensembl transcript: ENST00000548044
  gene symbol: NAP1L1
  hgvsc: ENST00000548044.1:c.306+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448836
  ensembl transcript: ENST00000551600
  gene symbol: NAP1L1
  hgvsc: ENST00000551600.1:c.348+355T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187109
  ensembl transcript: ENST00000549988
  gene symbol: NAP1L1
  hgvsc: ENST00000549988.1:n.357T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447196
  ensembl transcript: ENST00000552342
  gene symbol: NAP1L1
  hgvsc: ENST00000552342.1:c.429+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000445008
  ensembl transcript: ENST00000535020
  gene symbol: NAP1L1
  hgvsc: ENST00000535020.2:c.429+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000409795
  ensembl transcript: ENST00000431879
  gene symbol: NAP1L1
  hgvsc: ENST00000431879.3:c.225+355T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448133
  ensembl transcript: ENST00000550934
  gene symbol: NAP1L1
  hgvsc: ENST00000550934.1:c.348+355T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000376947
  ensembl transcript: ENST00000393263
  gene symbol: NAP1L1
  hgvsc: ENST00000393263.3:c.429+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000444759
  ensembl transcript: ENST00000542344
  gene symbol: NAP1L1
  hgvsc: ENST00000542344.1:c.306+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000261182
  ensembl transcript: ENST00000261182
  gene symbol: NAP1L1
  hgvsc: ENST00000261182.8:c.429+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000446804
  ensembl transcript: ENST00000552147
  gene symbol: NAP1L1
  hgvsc: ENST00000552147.1:c.315+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000448764
  ensembl transcript: ENST00000551992
  gene symbol: NAP1L1
  hgvsc: ENST00000551992.1:c.429+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000447793
  ensembl transcript: ENST00000549596
  gene symbol: NAP1L1
  hgvsc: ENST00000549596.1:c.429+15T>C
  variant of: http://identifiers.org/hgnc/7637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187109
  ensembl protein: ENSP00000437507
  ensembl transcript: ENST00000544816
  gene symbol: NAP1L1
  hgvsc: ENST00000544816.1:c.-121+15T>C
  variant of: http://identifiers.org/hgnc/7637
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.Phe148Phe
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 4791
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2177
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2482
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10550
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1430
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11018
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2235
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1722
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1068
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2756
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2774
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26283
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 904
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

FS
type: SiteQuality
SIO_000300: 1.8468e1

QD
type: SiteQuality
SIO_000300: 7.74e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

VQSLOD
type: SiteQuality
SIO_000300: -3.22e0

DP
type: SiteQuality
SIO_000300: 2.75144e6

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1430
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4792
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6199
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7951
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10571
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 178
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1722
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2482
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2321
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11026
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 820
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1068
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6100
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26285
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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

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

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

FS
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

VQSLOD
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e0

QD
type: SiteQuality
SIO_000300: 1.177e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.752394e6

GenotypeDepth
all individuals: 3664
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2423
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7953
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2481
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11043
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10612
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4792
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2755
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 819
bin: 8.25e1
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VQSLOD
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DP
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MQ
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MQRankSum
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African
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MQ
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VQSLOD
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South Asian
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East Asian
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African
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European (Non-Finnish)
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MQ
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VQSLOD
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DP
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African
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European (Non-Finnish)
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FS
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VQSLOD
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African
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European (Finnish)
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East Asian
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VQSLOD
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FS
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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MQ
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DP
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African
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variant carriers: 0

GenotypeQuality
all individuals: 3942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7986
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26230
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.033612425676495e-4
allele num: 16482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.815e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 2.002e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.99e-2

QD
type: SiteQuality
SIO_000300: 1.44e1

DP
type: SiteQuality
SIO_000300: 2.688003e6

GenotypeDepth
all individuals: 2157
bin: 6.25e1
variant carriers: 2141

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 19

GenotypeDepth
all individuals: 1628
bin: 6.75e1
variant carriers: 1620

GenotypeDepth
all individuals: 2664
bin: 5.75e1
variant carriers: 2649

GenotypeDepth
all individuals: 4832
bin: 4.75e1
variant carriers: 4803

GenotypeDepth
all individuals: 633
bin: 1.25e1
variant carriers: 597

GenotypeDepth
all individuals: 1097
bin: 7.75e1
variant carriers: 1091

GenotypeDepth
all individuals: 1025
bin: 8.25e1
variant carriers: 1021

GenotypeDepth
all individuals: 7055
bin: 2.75e1
variant carriers: 6465

GenotypeDepth
all individuals: 766
bin: 9.25e1
variant carriers: 763

GenotypeDepth
all individuals: 5326
bin: 9.75e1
variant carriers: 5300

GenotypeDepth
all individuals: 4383
bin: 2.25e1
variant carriers: 4076

GenotypeDepth
all individuals: 7725
bin: 3.25e1
variant carriers: 7502

GenotypeDepth
all individuals: 6137
bin: 4.25e1
variant carriers: 6092

GenotypeDepth
all individuals: 1337
bin: 7.25e1
variant carriers: 1332

GenotypeDepth
all individuals: 1844
bin: 1.75e1
variant carriers: 1800

GenotypeDepth
all individuals: 7371
bin: 3.75e1
variant carriers: 7316

GenotypeDepth
all individuals: 187
bin: 7.5e0
variant carriers: 158

GenotypeDepth
all individuals: 833
bin: 8.75e1
variant carriers: 827

GenotypeDepth
all individuals: 3672
bin: 5.25e1
variant carriers: 3649

GenotypeQuality
all individuals: 650
bin: 5.25e1
variant carriers: 624

GenotypeQuality
all individuals: 872
bin: 7.25e1
variant carriers: 824

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 93

GenotypeQuality
all individuals: 490
bin: 4.75e1
variant carriers: 451

GenotypeQuality
all individuals: 2023
bin: 8.25e1
variant carriers: 1992

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 30

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 2146

GenotypeQuality
all individuals: 1492
bin: 6.75e1
variant carriers: 1350

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 56

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 73

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 188

GenotypeQuality
all individuals: 46651
bin: 9.75e1
variant carriers: 46507

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 141

GenotypeQuality
all individuals: 470
bin: 5.75e1
variant carriers: 448

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 13

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 22

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 275

GenotypeQuality
all individuals: 1842
bin: 7.75e1
variant carriers: 1770

GenotypeQuality
all individuals: 1806
bin: 6.25e1
variant carriers: 1071

GenotypeQuality
all individuals: 1162
bin: 8.75e1
variant carriers: 1147

Other
type: Population
allele count: 778
allele frequency: 8.625277161862528e-1
allele num: 902
num of homozygotes: 337

European (Non-Finnish)
type: Population
allele count: 53867
allele frequency: 8.124490965581732e-1
allele num: 66302
num of homozygotes: 21907

Latino
type: Population
allele count: 10598
allele frequency: 9.180526680526681e-1
allele num: 11544
num of homozygotes: 4868

South Asian
type: Population
allele count: 15444
allele frequency: 9.362269641125122e-1
allele num: 16496
num of homozygotes: 7245

European (Finnish)
type: Population
allele count: 5447
allele frequency: 8.250530142381096e-1
allele num: 6602
num of homozygotes: 2243

African
type: Population
allele count: 9751
allele frequency: 9.435842848848461e-1
allele num: 10334
num of homozygotes: 4607

East Asian
type: Population
allele count: 8592
allele frequency: 9.995346672871103e-1
allele num: 8596
num of homozygotes: 4294

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-2

QD
type: SiteQuality
SIO_000300: 3.116e1

DP
type: SiteQuality
SIO_000300: 3.351334e6

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeDepth
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1025
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4383
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2157
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7055
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1844
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 766
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4832
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5326
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2664
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6137
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3672
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7371
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7725
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1097
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46651
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 3.116e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 3.351334e6

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000187109
ensembl protein: ENSP00000448133
ensembl transcript: ENST00000550934
gene symbol: NAP1L1
hgvsc: ENST00000550934.1:c.374T>C
hgvsp: ENSP00000448133.1:p.Ile125Thr
variant of: http://identifiers.org/hgnc/7637

GenotypeDepth
all individuals: 2215
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1328
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1519
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 468
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 258
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1488
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14579
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 632
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8013
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1071
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24704
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2349
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 325
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5516
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 709
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2626
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080335140463283e-5
allele num: 64928
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.653e0

DP
type: SiteQuality
SIO_000300: 1.879397e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.302e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.074e0

VQSLOD
type: SiteQuality
SIO_000300: -2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.544e1

Annotation
canonical: false
consequence: splice_acceptor_variant
consequence: intron_variant
ensembl gene: ENSG00000187109
ensembl protein: ENSP00000448167
ensembl transcript: ENST00000547773
gene symbol: NAP1L1
hgvsc: ENST00000547773.1:c.241-5_241-2delTCAA
variant of: http://identifiers.org/hgnc/7637

GenotypeDepth
all individuals: 1424
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7226
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1488
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2139
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4713
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 551
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22910
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2076
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14252
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 461
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1021
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5466
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 33202
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6164
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565827383189277e-5
allele num: 63864
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.205783790492739e-5
allele num: 16114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 9.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

MQRankSum
type: SiteQuality
SIO_000300: -1.514e0

MQ
type: SiteQuality
SIO_000300: 5.73e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.821054e6

GenotypeDepth
all individuals: 2104
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2573
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1971
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21055
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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East Asian
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Latino
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European (Non-Finnish)
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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allele num: 15630
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Other
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East Asian
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MQ
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DP
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

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

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South Asian
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East Asian
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European (Finnish)
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

African
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num of homozygotes: 0

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

Latino
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European (Finnish)
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FS
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 1

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

East Asian
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Other
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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DP
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SIO_000300: 8.67142e5

BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

Other
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Latino
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South Asian
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allele frequency: 3.1750063500127e-4
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European (Finnish)
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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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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 35

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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East Asian
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African
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European (Non-Finnish)
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Other
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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QD
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BaseQRankSum
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DP
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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ClippingRankSum
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DP
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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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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South Asian
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East Asian
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European (Finnish)
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African
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Other
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Latino
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allele num: 11014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.14756876548038e-5
allele num: 61368
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 4.849e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.598706e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5384
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11454
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1342
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1704
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32069
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2504
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 692
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1587
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4522
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6512
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.106458326861545e-5
allele num: 64382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.674742e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeDepth
all individuals: 1163
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32318
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 692
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 237
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5470
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11559
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1594
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2510
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546216408448527e-5
allele num: 64674
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.429e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.973e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.449e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

FS
type: SiteQuality
SIO_000300: 6.623e0

DP
type: SiteQuality
SIO_000300: 1.681601e6

GenotypeDepth
all individuals: 237
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 205
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variant carriers: 1

GenotypeDepth
all individuals: 33054
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2514
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5564
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 631
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11921
bin: 2.75e1
variant carriers: 1